Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
A late-appearing component of the event-related potential. P300 stands for a positive deflection in the event-related voltage potential at 300 millisecond poststimulus. Its amplitude increases with unpredictable, unlikely, or highly significant stimuli and thereby constitutes an index of mental activity. (From Campbell, Psychiatric Dictionary, 6th ed)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Study of mental processes and behavior of schizophrenics.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.
Methods of detecting genetic etiology in human traits. The basic premise of twin studies is that monozygotic twins, being formed by the division of a single fertilized ovum, carry identical genes, while dizygotic twins, being formed by the fertilization of two ova by two different spermatozoa, are genetically no more similar than two siblings born after separate pregnancies. (Last, J.M., A Dictionary of Epidemiology, 2d ed)
The electric response evoked in the CEREBRAL CORTEX by ACOUSTIC STIMULATION or stimulation of the AUDITORY PATHWAYS.
Disturbances in mental processes related to learning, thinking, reasoning, and judgment.
A social group consisting of parents or parent substitutes and children.
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
A complex involuntary response to an unexpected strong stimulus usually auditory in nature.
Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Genotypic differences observed among individuals in a population.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
The ability of the BRAIN to suppress neuronal responses to external sensory inputs, such as auditory and visual stimuli. Sensory filtering (or gating) allows humans to block out irrelevant, meaningless, or redundant stimuli.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)
Disorders affecting TWINS, one or both, at any age.
An act performed without delay, reflection, voluntary direction or obvious control in response to a stimulus.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)
A major deviation from normal patterns of behavior.
The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity.
Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
Intellectual or mental process whereby an organism obtains knowledge.
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Discussions, descriptions or catalogs of public displays or items representative of a given subject.
Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available.
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.
A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.
A 34-kDa glycosylated protein. A major and most common isoform of apolipoprotein E. Therefore, it is also known as apolipoprotein E (ApoE). In human, Apo E3 is a 299-amino acid protein with a cysteine at the 112 and an arginine at the 158 position. It is involved with the transport of TRIGLYCERIDES; PHOSPHOLIPIDS; CHOLESTEROL; and CHOLESTERYL ESTERS in and out of the cells.
When the plants matured, no one genotype grew best at all altitudes, and at each altitude the seven genotypes fared differently ... Candidate studies such as these require strong biological hypotheses which are currently difficult to select given the little ... As a result of the overlap of endophenotypes amongst disorders this suggests that the outcomes of gene-environment interactions ... Gene-environment interaction (or genotype-environment interaction or GxE or G×E) is when two different genotypes respond to ...
Another candidate causative gene that has been identified is ADGRL3. In Zebrafish, knockout of this gene causes a loss of ... Scerif, Gaia; Baker, Kate (2015). "Annual Research Review: Rare genotypes and childhood psychopathology - uncovering diverse ... Kebir, Oussama; Joober, Ridha (16 March 2011). "Neuropsychological endophenotypes in attention-deficit/hyperactivity disorder: ... Gizer, Ian R.; Ficks, Courtney; Waldman, Irwin D. (9 June 2009). "Candidate gene studies of ADHD: a meta-analytic review". ...
Delong R (2007). "GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype ... McCabe, L. L.; McCabe, E. R. B. (2013). "Down syndrome and personalized medicine: Changing paradigms from genotype to phenotype ...
Candidate Genes. One popular approach has been to test for association candidate genes with behavioural phenotypes, where the ... The Human Genome Project has allowed scientists to directly genotype the sequence of human DNA nucleotides.[29] Once genotyped ... and endophenotypes including brain structure[65] and function.[66] There are a small handful of replicated and robustly studied ... Hewitt, John K. (2011-09-18). "Editorial Policy on Candidate Gene Association and Candidate Gene-by-Environment Interaction ...
Together, these candidate genes pointed to an importance of neurotransmission and immunology as important factors in the ... Dafny N, Yang PB (15 February 2006). "The role of age, genotype, sex, and route of acute and chronic administration of ... 3-monooxygenase gene expression and enzyme activity in Schizophrenia and genetic association with wchizophrenia endophenotypes ... In 2013 this dataset was expanded to identify in total 13 candidate loci for the disease, and also implicated calcium ...
... (or genotype-environment interaction or GxE or G×E) is when two different genotypes respond to ... Candidate studies such as these require strong biological hypotheses which are currently difficult to select given the little ... As a result of the overlap of endophenotypes amongst disorders this suggests that the outcomes of gene-environment interactions ... When the plants matured, no one genotype grew best at all altitudes, and at each altitude the seven genotypes fared differently ...
Genotyping. Samples (399) were genotyped using the Illumina HapMap550K. Fourteen were discarded due to low genotype call rate ... EEG as an Endophenotype for Alcoholism. To evaluate whether SGIP1 is a candidate gene for alcoholism, in addition to EEG ... Genotypes were called using BeadStudio 3.2 (Illumina). Thirty-five replicate pairs showed average genotype reproducibility of ... 2002) Role of genotype in the cycle of violence in maltreated children. Science 297:851-854. 3. Gottesman II, Gould TD (2003) ...
Specific clinical endophenotypes are correlated with the extent of the deletion, and potential candidate genes discussed. The ... Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C ... Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C ... Genotype-phenotype correlations. Detailed molecular and clinical studies were performed in our five 9q34.3 deletion patients in ...
... of these 12 LOAD candidate genes, we tested for associations with expression levels as endophenotypes. The strongest expression ... Figure 1 Relative IDE expression levels by rs7910977 genotypes. IDE expression levels relative to the mean of the major ... Using the genotypes from our LOAD genome-wide association study for the cis-single nucleotide polymorphisms (SNPs) (n = 619) ... Gene expression levels as endophenotypes in genome-wide association studies of Alzheimer disease.. Zou F1, Carrasquillo MM, ...
... present the stair-like distribution expected for endophenotypes (ADHD > siblings > typically developing children (TD) without ... Present the stair-like distribution expected for endophenotypes (ADHD,Siblings,Typically Developing children (TD) without ... to explore whether intra-individual variability of RTs agrees with criteria proposed by Gottesman and Gould for endophenotypes ... to explore whether intra-individual variability of RTs agrees with criteria proposed by Gottesman and Gould for endophenotypes ...
... demonstrating utility as additional endophenotypes. Genotyping via a custom array of 1536 SNPs from 94 candidate genes ... genotyping. We show that SNP genotyping of the unamplified DNA is more robust than genotyping amplified dried blood spot DNA, ... genotyping. We show that SNP genotyping of the unamplified DNA is more robust than genotyping amplified dried blood spot DNA, ... GENETIC ASSESSMENT OF CANDIDATE ENDOPHENOTYPES FROM THE CONSORTIUM ON THE GENETICS OF SCHIZOPHRENIA FAMILY STUDY 15th ...
It will be argued that imaging endophenotypes can be used to help build or refute molecular pathways linking ApoE to AD.. ApoE ... Studies have indicated that APOE genotype affects the level of amyloid in the brains of humans and mouse models of Alzheimers ... and patients with AD we have established a pipeline of identifying and then validating candidate genes that may interact with ... We also examined whether APOE genotype affected glial activation in vivo, based on our earlier work that apoE and an apoE- ...
... and implies the need for endophenotypes that are seen as an intermediate step between genotype and behaviour. Endophenotypes ... to this approach since the authors were unable to replicate significant associations between endophenotypes and candidate genes ... Introduction - Genetics, Endophenotypes and Biomarkers. In some fields of medicine, individualized and personalized treatment ... Given that the link between endophenotypes and genetics might not be that strong or simple as suggested, an association between ...
... thus an ideal endophenotype candidate to explain how genes may influence behavior via individual differences in neural function ... thus an ideal endophenotype candidate to explain how genes may influence behavior via individual differences in neural function ... One candidate is the COMT Val158Met polymorphism, known to modulate prefrontal dopamine levels and affect DD. To identify ... Our study thus establishes baseline activation level in left DPFC as salient neural signature in the form of an endophenotype ...
... local neural endophenotypes (described in our companion paper) can be incorporated into causal models to infer target candidate ... local neural endophenotypes (described in our companion paper) can be incorporated into causal models to infer target candidate ... Associating Neural Alterations and Genotype in Autism and Fragile X Syndrome: Incorporating Perceptual Phenotypes in Causal ...
... by taking into account environmental and life style factors and stratifying data on endophenotypes to decrease genetic ... but also on the consideration of environmental factors and endophenotypes like mammary density or tumor characteristics to ... For instance, SNP genotyping, mutation screening of candidate genes or whole exome sequencing may be undertaken in all subjects ... relative risk associated with a susceptibility genotype) sought by a candidate gene approach in a case-control study design can ...
Here, we genotyped and scanned 94 healthy subjects using fMRI during a reading task. We studied the correlation of genetic ... These regions possess candidate genes that have been screened for mutations or association with autism. However, a clear ... We also examined whether 3-OMD levels represented an endophenotype, associated with the genetic liability to OCD, by assessing ... Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected ...
The use of quantitative endophenotypes such as CSF Aβ levels to evaluate candidate genes in late-onset AD has emerged recently ... Genotyping. APOE genotyping. Genetic variation at the APOE locus was determined by restriction isotyping using PCR ... showed significant association between CALHM1 genotype and Aβ levels, indicating that the effect of CALHM1 genotype on Aβ ... 2003) The endophenotype concept in psychiatry: etymology and strategic intentions. Am. J. Psychiatry. 160:636-45.CrossRefPubMed ...
Parsing larger endophenotype datasets into correlated modules has the potential to identify genotypes with unique physiological ... and the MetS-like symptoms suggests that all of these metabolites are excellent candidates for mediating the genotype-by-diet ... Transcript genotype-by-diet interaction:. The first module from the MMC analysis of the transcripts significant for a genotype- ... Metabolite genotype-by-diet interaction:. Focusing on the metabolites with a significant genotype-by-diet interaction effect ...
Genotyping for candidate gene polymorphism. 200. Female. 18 Years to 55 Years (Adult). NCT02733172. 13-001113. Vulvodynia. July ... Profiling Vulvodynia Based on Neurobiological and Behavioral Endophenotypes. *Vulvodynia. Observational. *University of ...
The study of genetic endophenotypes and candidate genes look to be at the horizon of new change in genetic research. The use of ... improve patient care by helping the clinician to individualize a patients treatment plan based on the individuals genotype at ... Endophenotypes or Trait Markers. The basic idea of endophenotypes, or trait markers, is to find a trait that is more common in ... The Candidate Gene Approach. A candidate gene is a gene for which there is a prior reason to suggest its involvement in the ...
PMID 18755576] Effect of COMT val158met genotype on cognition and personality. [PMID 18787887. ] Genetic variation in candidate ... Structural cerebral variations as useful endophenotypes in schizophrenia: do they help construct "extended endophenotypes"? ... Morphological characteristics of fast and slow spindles did not show significant differences between genotypes. COMT genotype ... The (A;A) genotype was also more common, but statistically not that significantly, in venous thrombosis patients (OR 1.61, CI: ...
However, possible associations of anhedonia with candidate single nucleotide polymorphisms have rarely been examined in first- ... Endophenotype-genotype associations in first-degree relatives of people with schi Docherty, Anna R. University of Missouri- ... Endophenotype-genotype associations in first-degree relatives of people with schi. Docherty, Anna / University of Missouri- ... Endophenotype-genotype associations in first-degree relatives of people with schi. Docherty, Anna / University of Missouri- ...
Specifically, GMC in the left PCC and right dACC represent potential candidate endophenotypes for psychopathic traits. These ... Imaging genetic approaches with measured genotypes could also provide a promising area of new inquiry. ... Figure 2 illustrates the phenotypic group difference maxima for these 3 candidate endophenotype areas together with graphs ... but the left PHG is a much weaker candidate endophenotype. Both the left PCC and right dACC are involved in empathy for pain, ...
We have investigated the two neighbouring cytokeratin genes KRT8 and KRT18 in a candidate gene approach to ask whether variants ... Genotyping. KRT8 and KRT18 markers have been genotyped as described before [5]. For microsatellite marker development, the ... Genotyping data was evaluated by comparing cases and references with respect to allele and haplotype as well as genotype and ... We have genotyped KRT8Sat, a dinucleotide repeat located between KRT8 and KRT18 (Figure 1A). Allele distributions were ...
... candidate genes. The second aim of this study is to explore the proposal that specific genotypes and their interaction impact ... Predicting negative affect from genotype-stress interactions and endophenotype markers†by exploring gene-brain-behaviour ... specific genotypes in monoaminergic and BDNF candidate genes and interaction between these systems. However, many of these ... The first aim of this study is to integrate candidate markers of clinical depression in the same sample of participants to ...
Based on these published reports, our review starts with an overview of candidate gene studies, considers ADHD endophenotypes, ... it serves as an intermediate marker between genotype and phenotype. Endophenotypes may include neurophysiological, biochemical ... 2.6 Other candidate genes Other candidate genes for ADHD studied include brain derived neurotrophic factor (BDNF), brain- ... 3. Endophenotype Endophenotype is a heritable trait associated with a disease that is measurable and, thus, ...
Association of MTHFR C677T Genotype With Ischemic Stroke Is Confined to Cerebral Small Vessel Disease Subtype. Rutten-Jacobs LC ... Background: White matter hyperintensities (WMH) are a common radiographic finding and may be a useful endophenotype for small ... Candidate-gene analysis of white matter hyperintensities on neuroimaging Theresa Tran 1 , Ioana Cotlarciuc 2 , Sunaina Yadav 3 ... Candidate-gene analysis of white matter hyperintensities on neuroimaging Theresa Tran et al. J Neurol Neurosurg Psychiatry. ...
Genetic association studies are making headway in identifying candidate genes for schizophrenia. In addition, metabonomics, ... Several candidate endophenotypes such as working memory, oculomotor function, sensory motor grating, and glial cell ... Neuroimaging is also making progress in linking genotypes to brain morphology, supporting the endophenotype approach. ... Endophenotypes in the form of cognitive neuroimpairments such as prospective memory deficit [20, 21], and visual and verbal ...
Reward- and memory-related candidate genes dopamine D2 receptor (DRD2) and brain-derived neurotrophic factor (BDNF), as well … ... We genotyped 546 unrelated and heroin-dependent subjects for the candidate genes noted, and 228 sex- and age-matched unrelated ... and Opioid Receptors to Heroin Dependence and Endophenotypes Among the Han Chinese Xuan Gao 1 , Youxin Wang 2 , Minglin Lang 3 ... Genetic susceptibility to heroin addiction: a candidate gene association study. Levran O, Londono D, OHara K, Nielsen DA, ...
There is as of yet, however, no strong consensus on what the "best" endophenotypes may be. Some candidates that have been ... "endophenotypes," or "measurable components unseen by the unaided eye along the pathway between disease and distal genotype" ( ... as is the search for additional new candidate endophenotypes. ... Thus, endophenotypes may serve as proxies for schizophrenia ... However, because the effect on risk of any given variation in any candidate gene (e.g., a dopamine or glutamate receptor gene) ...
Genotyping of Tg Mice by PCR. Genomic tail DNA was used for genotyping Tg animals by PCR. The following primers were used: ... Linkage and candidate gene association studies have identified several genes, including Neuregulin 1 (NRG1; Stefansson et al., ... Arrows indicate the positions of PCR primers used for genotyping. B, PCR genotyping of S-SCAM Tg mice using the transgene ... n = 5-6 per genotype. *p , 0.05, **p , 0 0.01, t test. D, Immunostaining of PV in WT-M and Tg-M mouse brains (red, anti-NeuN; ...
The re-profiling of already FDA approved drugs means that any candidates to come out of the screen can be used immediately on ... Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies Autores: Szymanska ... gives rise to discrete endophenotypes in ciliopathies.. Establishment of a ciliopathy cohort for genetic and functional ... As this number of candidates is somewhat lower than hoped however, we decided to take on a secondary screen to try and find ...
... a poorer performance on all four measures compared to children with the 10/10 genotype. No effect of genotype on Wisconsin Card ... Taking into account a correction for multiple comparisons, the main finding of this study is a significant genotype effect on ... To investigate the relationship between the dopamine transporter gene (SLC6A3) 3-UTR VNTR genotypes and executive function in ... Results are compatible with the view that SLC6A3 genotype may modulate components of executive function performance in children ...
The Thompson lab papers represent two of the first five papers published from the ADNI genotyping data, but many more such ... People carrying the FTO risk allele would be good candidates for trials of new AD prevention drugs, Thompson said, because they ... MRI brain atrophy served as an endophenotype, that is, an inherited phenotype associated with AD. Studying the genetics of an ... The researchers analyzed the genotypes and structural MRI brain scans of 206 healthy elderly participants in the ADNI study, ...
Common diseases with a genetic basis are likely to have a very complex etiology, in which the mapping between genotype and ... While each of these genes are viable candidates for LOAD based on their known biological function, further studies are needed ... which provide endophenotypes that can be mapped to genotypic data. Methodologies enabling the integration of disparate data ... A new comprehensive statistical and computational strategy for identifying the missing link between genotype and phenotype is ...
  • Risk genes for schizophrenia have recently been identified using quantitative variables derived from functional magnetic resonance imagingincomparativelysmallcohorts(4).Therefore,animportant strategy to increase power for GWAS of psychiatric disorders might be the use of endophenotypes. (speakerdeck.com)
  • We measured messenger RNA (mRNA) expression levels of 12 LOAD candidate genes in the cerebella of 200 subjects with LOAD. (nih.gov)
  • Using the genotypes from our LOAD genome-wide association study for the cis-single nucleotide polymorphisms (SNPs) (n = 619) of these 12 LOAD candidate genes, we tested for associations with expression levels as endophenotypes. (nih.gov)
  • Although some promising findings using different sets of clinical and neuroimaging endophenotypes in major depression have been reported [ 6 ], a recent study on psychophysiological endophenotypes can be seen as a drawback to this approach since the authors were unable to replicate significant associations between endophenotypes and candidate genes [ 7 ]. (karger.com)
  • Such neural baseline activation measures are highly heritable and stable over time, thus an ideal endophenotype candidate to explain how genes may influence behavior via individual differences in neural function. (frontiersin.org)
  • We have investigated the two neighbouring cytokeratin genes KRT8 and KRT18 in a candidate gene approach to ask whether variants in KRT8 and/or KRT18 modify the impaired ion conductance known as the CF basic defect, and whether they are associated with correct trafficking of mutant CFTR and disease severity of CF. (biomedcentral.com)
  • Reward- and memory-related candidate genes dopamine D2 receptor (DRD2) and brain-derived neurotrophic factor (BDNF), as well as the opioid receptor genes (OPRM1, OPRD1, and OPRK1), have been implicated in drug dependence, but relatively little is known on their contributions to heroin dependence in populations worldwide. (cdc.gov)
  • Hence, we evaluated the contributions of the above five candidate genes in heroin dependence and several important related endophenotypes (the onset age of heroin use and subjective response to first heroin use), at single single-nucleotide polymorphism as well as haplotype levels, in a Han Chinese population sample. (cdc.gov)
  • We genotyped 546 unrelated and heroin-dependent subjects for the candidate genes noted, and 228 sex- and age-matched unrelated controls. (cdc.gov)
  • Genetic association studies are making headway in identifying candidate genes for schizophrenia. (biomedcentral.com)
  • While each of these genes are viable candidates for LOAD based on their known biological function, further studies are needed to replicate these statistical findings and to elucidate possible biological interaction mechanisms between LRRTM3 and these genes. (vanderbilt.edu)
  • We performed a meta-analysis of studies investigating candidate genes and WMH to elucidate the genetic susceptibility to WMH and tested associated variants in a new independent WMH cohort. (edu.au)
  • Methods: Database searches through March 2014 were undertaken and studies investigating candidate genes in WMH were assessed. (edu.au)
  • ASSESS THE CORRELATION OF 22q11.2 DELETIONS WITH THE PSYCHOSIS / AUTISTIC PHENOTYPE AND ASSOCIATED ENDOPHENOTYPES: To evaluate whether the size of the deletion and / or polymorphisms at selected candidate genes within the 22q11.2 deleted region contribute to the psychosis and or autistic phenotype or to related psychophysiologic / neuropsychological impairments in 22q11DS. (clinicaltrials.gov)
  • Genotyping will be performed using approximately 75 previously characterized SNPs, with an increased density of SNPs in the target candidate genes (~3-5 SNPs per candidate gene). (clinicaltrials.gov)
  • Linkage studies of clinical phenotypes and electrophysiological endophenotypes have led to identification of genes involved in brain function as well as genes involved in alcohol dependence and related disorders. (alcohol-ism.info)
  • COGA has moved beyond identifying regions of linkage and is now identifying individual genes within those regions, using targeted single-nucleotide polymorphism (SNP) genotyping in which multiple SNPs were analyzed for each regional candidate gene. (alcohol-ism.info)
  • AlzGene: published AD candidate genes. (jamanetwork.com)
  • Candidate gene studies have focussed on the nicotinic acetylcholine receptors and genes in the nicotine metabolism, dopaminergic, serotonergic, GABAergic, and opioid pathways, but few associations have been convincingly replicated. (els.net)
  • Pharmacogenomic association studies were completed to (1) examine candidate single-nucleotide polymorphisms (SNPs) in genes known to be involved with glutamate signaling, and (2) conduct an exploratory genome-wide association study of symptom response to identify potential novel associations for future investigation. (nature.com)
  • Only a few candidate gene studies, linkage studies and GWA studies have specifically addressed this co-occurrence, pinpointing to some promising pleiotropic genes, loci and single nucleotide polymorphisms (SNPs), but the research field is in urgent need for better designed and powered studies to tackle this complex issue. (springer.com)
  • Four candidate genes were identified, two of which belong to the same gene family, with a possible role in the neurodevelopmental mechanisms underlying reading. (ubc.ca)
  • Recent genetic studies have implicated a number of candidate genes in the pathogenesis of Autism Spectrum Disorder (ASD). (ucl.ac.uk)
  • In the face of evidence that genes predisposing to BPI may be transmitted without expression of the clinical phenotype, interest has arisen in developing endophenotypes for the illness, indicators of processes mediating between genotype and phenotype. (grantome.com)
  • 3 Several candidate genes, including some that are expressed during nephrogenesis, have been associated with CAKUT. (scielo.br)
  • Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A , DDC and MAOB . (snpedia.com)
  • In this study, a pharmacogenomics approach was taken to discover candidate genes for this disorder. (bvsalud.org)
  • A growing number of studies have evaluated the relationships between candidate genes and cognitive processes or brain volumes in healthy and mood disordered samples (Bigos et al. (mirnamimics.com)
  • Significant associations have, however, been found with candidate genes related to neurotransmitter pathways, especially in the dopaminergic or serotonergic systems. (els.net)
  • Candidate gene association studies indicate significant relationships between personality disorders and genes related to neurotransmitter pathways, especially in the dopaminergic or serotonergic systems. (els.net)
  • Molecular Interaction Network Approach (MINA) identifies association of novel candidate disease genes. (uchicago.edu)
  • The National Institute on Drug Ab use on behalf of the NIH Genes, Environment and Health Initiative encourages functional characterization of genetic variants that have been statistically nominated to be associated with a particular outcome through common, complex disease gene discovery ap proaches, such as genome-wide association studies, candidate gene approaches, or sequencing studies. (nih.gov)
  • Use of specific strategies allowing to characterize « candidate genes » is thus strongly advocated. (medecinesciences.org)
  • It is suggested that focusing on sub-mendelian entities and intermediate phenotypes (endophenotypes) are a necessary step to define the biological pathways in which susceptibility genes are likely to be found. (medecinesciences.org)
  • Candidate genes and neuropsychological phenotypes in children with ADHD: review of association studies. (carbocation.com)
  • Common diseases with a genetic basis are likely to have a very complex etiology, in which the mapping between genotype and phenotype is far from straightforward. (vanderbilt.edu)
  • A new comprehensive statistical and computational strategy for identifying the missing link between genotype and phenotype is proposed, which emphasizes the need to address heterogeneity in the first stage of any analysis. (vanderbilt.edu)
  • To find out, researchers are trying to fill in the blanks between the genetic blueprint (genotype) and psychiatric disorder (psychiatric phenotype). (theconversation.com)
  • The phenotype is the eventual outcome of a specific genotype. (theconversation.com)
  • But between genotype and psychiatric phenotype lie many measurable traits that together are called endophenotypes. (theconversation.com)
  • The increase in neurophysiological variability, unaccompanied by increased behavioural variability, suggests that this risk gene is associated with an attenuated form of an endophenotype associated with the psychosis phenotype. (cf.ac.uk)
  • Caucasian adults (n = 403) were analyzed from among a multi-racial cohort of consecutive subjects (n = 543) genotyped as part of a prospective genotype-phenotype association study of hypertensive heart disease at Washington University. (beds.ac.uk)
  • In neuropsychiatry, these considerations have led to the use of intermediate phenotypes (or endophenotypes) that are her- itable, relevant to disease, and have good measurement properties and assay variation more closely related to gene function (3) as surrogates to probe the underlying biology of complex disorders. (speakerdeck.com)
  • In addition to their potential role improving the statistical power of molecular-genetic studies, endophenotypes should be a valuable tool when studying how the already-known genetic risk variants are related to the neurobiological and neuro-physiological phenotypes that underlie psychiatric disorders, which could be the first step to elucidate the specific domains of brain function influenced by these variants. (frontiersin.org)
  • where we raised 20 wild-type genetic lines of Drosophila larvae on four diets and measured gross phenotypes of body weight, total sugar, and total triglycerides, as well as the endophenotypes of metabolomic and whole-genome expression profiles. (g3journal.org)
  • The specific metabolites L-DOPA and N -arachidonoyl dopamine make physiological links between the gross phenotypes across diets, whereas leucine and isoleucine thus exhibit genotype-by-diet interactions. (g3journal.org)
  • Between diets, we find low conservation of the endophenotypes that correlate with the gross phenotypes. (g3journal.org)
  • COGA was designed as a family study, incorporating detailed assessments of the participants in many domains to allow derivation and study of endophenotypes along with diagnostic phenotypes. (alcohol-ism.info)
  • Phenotypes are a set of observable characteristics that result when a particular genotype interacts with its environment. (theconversation.com)
  • This study shows that cognitive endophenotypes may underlie psychiatric phenotypes and demonstrates their predictive power. (theconversation.com)
  • Individuals with different genotypes are affected differently by exposure to the same environmental factors, and thus gene-environment interactions can result in different disease phenotypes. (wikipedia.org)
  • Non mendelian diseases are characterized by complex correspondance between genotypes and phenotypes. (medecinesciences.org)
  • There is growing need for association studies targeting endophenotypes in the search for the underlying biological mechanisms of schizophrenia. (grantome.com)
  • There evidence that one endophenotype, anhedonia, or the extent to which an individual reports pleasure or interest in social and physical stimuli, is associated with genetic liability to schizophrenia, and with differences in prodromal vulnerability to schizophrenia-spectrum disorders. (grantome.com)
  • Despite its importance as an endophenotype, it has been unclear how anhedonia might directly relate to the neurobiological substrates of schizophrenia. (grantome.com)
  • However, possible associations of anhedonia with candidate single nucleotide polymorphisms have rarely been examined in first-degree relatives of people with schizophrenia. (grantome.com)
  • OBJECTIVES: According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. (bvsalud.org)
  • Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. (bvsalud.org)
  • In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). (bvsalud.org)
  • The chromogranin B (CHGB), a member of the chromogranin gene family, has been proposed as a candidate gene associated with the risk of schizophrenia. (bvsalud.org)
  • MATERIALS AND METHODS: In the current study, 15 single nucleotide polymorphisms of CHGB were genotyped in 310 schizophrenia patients and 604 healthy controls. (bvsalud.org)
  • As further verification for the presence or absence of 22q11 microdeletions, we screened 238 Xhosa schizophrenia patients and 240 healthy Xhosa individuals from a larger schizophrenia candidate 22q11 gene study using molecular analyses. (scielo.org.za)
  • An endophenotype must be associated with a specific psychiatric illness , such as schizophrenia, and it must be heritable. (theconversation.com)
  • 6 Glutamate gene polymorphisms are also associated with neurocognitive endophenotypes in genetic studies of schizophrenia. (nature.com)
  • Allen A.J. Endophenotypes in schizophrenia: A selective review / M.E. Griss, B.S. Folley et al // Schizophrenia Research. (psyjournals.ru)
  • Bender S., Weisbrod M., Resch F. Which perspectives can endophenotypes and biological markers offer in the early recognition of schizophrenia? (psyjournals.ru)
  • Increased intra-subject variability (ISV) in reaction times (RTs) is a candidate endophenotype for several psychiatric and neurological conditions, including schizophrenia. (cf.ac.uk)
  • Grin1 is a candidate susceptibility gene for neuropsychiatric disorders, including schizophrenia, bipolar disorder, and attention deficit/hyperactivity disorder (ADHD). (biomedcentral.com)
  • People carrying the FTO risk allele would be good candidates for trials of new AD prevention drugs, Thompson said, because they are at elevated risk for developing the disease. (alzforum.org)
  • The homozygous subjects for the G allele (G/G genotype) at the MspI polymorphism showed a tendency to have a lower mean T-score with respect to the response time variability profiles of the CPT (P-value=0.068). (psych.ac.cn)
  • no significant differences in the genotype or allele frequen. (psych.ac.cn)
  • This trend was undetectable when all depressed patients were compared to the controls, suggesting that the admixture of familial cases changed the genotype and allele distributions. (edu.mk)
  • However, this effect was modulated by the COMT genotype: whereas Val allele carriers showed the typical dose-response relationship, Met/Met homozygotes exhibited a high risk for PTSD independently of the severity of traumatic load. (uni-bielefeld.de)
  • genotyping single nucleotide polymorphisms (SNPs) across the deleted genomic region. (clinicaltrials.gov)
  • We also investigated genotypes of polymorphisms in CHGB gene in each group. (bvsalud.org)
  • The aims of this study were to examine the association of the ADRA2A MspI and DraI polymorphisms with ADHD in Korean subjects, and to determine the relationship between the genotypes of these two polymorphisms and the candidate endophenotypes, as measured by the continuous performance test (CPT). (psych.ac.cn)
  • A case-control sample was genotyped for three BMP4 gene polymorphisms. (scielo.br)
  • We genotyped 60 Greek deafness patients homozygous for the 35delG mutation for six single nucleotide polymorphisms (SNPs) and two microsatellite markers, mapping within or flanking the GJB2 gene, as compared to 60 Greek hearing controls. (blogspot.com)
  • Our study thus establishes baseline activation level in left DPFC as salient neural signature in the form of an endophenotype that mediates the link between COMT and DD. (frontiersin.org)
  • Given that the link between endophenotypes and genetics might not be that strong or simple as suggested, an association between endophenotypes and disorder might still be present and could help to improve treatment and diagnostic decisions. (karger.com)
  • This study will extend initial findings reported in healthy controls relating to the previously approved BrainNet project titled: â€Å"Genetics integration: Predicting negative affect from genotype-stress interactions and endophenotype markers†by exploring gene-brain-behaviour pathways to clinical depression. (brainnet.net)
  • Indeed, the strategy of endophenotype identification is now acknowledged within psychiatric genetics (=-=Gottesman and Gould, 2003-=-) as an important approach to dealing with clinical heterogeneity of psychiatric disorders (the cause of the diagnostic difficulties). (psu.edu)
  • As SNP genotyping methods have become more affordable and more amenable to genotyping large numbers of SNPs and samples, CIDR wished to address both a perceived need in the statistical genetics community for additional research related to the analysis of large amounts of SNP data in pedigrees, and the need for CIDR to test high throughput SNP platforms to make an informed decision regarding SNP genotyping services. (alcohol-ism.info)
  • Endophenotypes Successfully Lead to Gene Identification: Results from the Collaborative Study on the Genetics of Alcoholism / D.M. Dick, K. Jones, N. Saccone et al // Behavior Genetics. (psyjournals.ru)
  • Flint J., Munafo M.R. The endophenotype concept in psychiatric genetics // Psychological Medicine. (psyjournals.ru)
  • Gilmore C.S., Malone S.M., Iacono W.G. Brain Electrophysiological Endophenotypes for Externalizing Psychopathology: A Multivariate Approach // Behavior Genetics. (psyjournals.ru)
  • Endophenotypes may help shed light on the etiology, cognitive impairment and genetics of psychiatric disorders. (eneuro.org)
  • A measure of motor sequencing deficit may be a potential endophenotype-a marker of familial risk-of speech sound disorder (SSD), according to a recent study in Psychiatric Genetics . (asha.org)
  • Here, we applied ex-Gaussian analysis to explore whether intra-individual variability of RTs agrees with criteria proposed by Gottesman and Gould for endophenotypes. (frontiersin.org)
  • Endophenotypes may be useful in decomposing or deconstructing a psychiatric disorder, which should result in more successful genetic analyses, redefinition of diagnosis, improved studies of the course of illness and development of pertinent animal models ( Gottesman and Gould, 2003 ). (eneuro.org)
  • These data further demonstrate the utility of endophenotype-based approaches focusing on CSF biomarkers for the identification or validation of risk factors for AD. (springer.com)
  • Use of biomarkers and other endophenotypes may provide greater power to identify genetic correlates of nicotine dependence. (els.net)
  • 6, 7, 11 Recently, based on clinical and molecular breakpoint analyses using FISH, microsatellites, and single nucleotide polymorphism (SNP) genotyping, two research groups have independently identified an ∼1.0 Mb shortest region of overlap (SRO) of 9q34.3 deletions. (bmj.com)
  • One candidate is the COMT Val158Met polymorphism, known to modulate prefrontal dopamine levels and affect DD. (frontiersin.org)
  • We compared volumetric differences in white and grey matter and fractional anisotropy values in control subjects characterised by genotype at rs7794745, a single nucleotide polymorphism in CNTNAP2. (ucl.ac.uk)
  • The PCLO gene was first identified as a candidate MDD gene in a GWAS study in which no findings of genome-wide significance were detected, but a suggestive result was obtained for the rs2522833 PCLO polymorphism [32]. (edu.mk)
  • Nevertheless, these findings would appear to suggest that a polymorphism previously associated with both MDD and endophenotypes seen as predisposing factors for depression is not a contributing factor for MDD in families with several affected members. (edu.mk)
  • Ninety-one healthy volunteers genotyped for rs1344706, a polymorphism on ZNF804A, had electroencephalographic data recorded while carrying out three n-back tasks. (cf.ac.uk)
  • Infant genotype may moderate sensitivity to maternal affective communications: attachment disorganization, quality of care, and the DRD4 polymorphism. (carbocation.com)
  • The endophenotype concept in psychiatry: etymology and strategic intentions. (jamanetwork.com)
  • Citation Query Gould TD: The endophenotype concept in psychiatry: etymology and strategic intentions. (psu.edu)
  • Gottesman I.I., Gould F.R.C. The endophenotype concept in psychiatry: etymology and strategic intentions. (psyjournals.ru)
  • Kendler K.S., Neale M.C. Endophenotype: a conceptual analysis // Molecular Psychiatry. (psyjournals.ru)
  • Going forward, genetic studies will increasingly focus time and resources to collecting phenotypic data that can refine definitions or subcategories of traits or diseases and can serve as endophenotypes, which are more likely to have simple etiologies and to directly map to specific genetic markers. (vanderbilt.edu)
  • The work presented here illustrated the utility of a large-scale (299-genotype and seven-tissue) gene expression resource to dissect traits across multiple levels of biological organization. (g3journal.org)
  • Testing for the mediating role of endophenotypes using molecular genetic data in a twin study of ADHD traits. (snpedia.com)
  • Infant social attention: an endophenotype of ASD-related traits? (seattlechildrens.org)
  • Independent component analysis was applied to extract latent LVDF traits from 14 measured echocardiography-derived endophenotypes of LVDF in 403 Caucasians. (beds.ac.uk)
  • Thus, by making cross-species functional genomics readily computable we identified a common QTL candidate for two related bio-behavioral processes via functional evidence and demonstrate sufficiency of the genetic locus as a source of variation underlying two traits. (genetics.org)
  • To investigate the relationship between the dopamine transporter gene ( SLC6A3 ) 3'-UTR VNTR genotypes and executive function in children with ADHD, 196 children diagnosed with ADHD were sequentially recruited, genotyped, and tested using a battery of three neuropsychological tests aimed at assessing the different aspects of executive functioning. (biomedcentral.com)
  • Examining impulsivity as an endophenotype using a behavioral approach: a DRD2 TaqI A and DRD4 48-bp VNTR association study. (carbocation.com)
  • Effects of craving and DRD4 VNTR genotype on the relative value of alcohol: an initial human laboratory study. (carbocation.com)
  • The aims in this study will (1) develop candidate neurocognitive and neuroimaging endophenotypes for bipolar I disorder (BPI), (2) examine the association of history of psychosis and these brain-behavior markers in BPI patients, and (3) determine if markers are sensitive to liability for psychosis. (grantome.com)
  • Given the high rates of psychosis in BPI and that history of psychosis may alter brain structure and function, we believe that elucidating neurocognitive and neuroimaging endophenotypes for the disorder must account for the potential impact of hallucinations and delusions on these markers. (grantome.com)
  • Balanza-Martinez V. Neurocognitive endophenotypes (Endophenocognitypes) from studies of relatives of bipolar disorder subjects: A systematic review / Balanza-Martinez V., Rubio C., Selva-Vera G. et al. (psyjournals.ru)
  • Frantom L.V., Allen D.N., Cross C.L. Neurocognitive endophenotypes for bipolar disorder // Bipolar Disorders. (psyjournals.ru)
  • Moreover, we have previously reported that specific genotype differences impact on neural pathways to influence cognitive and emotional features in individuals with subclinical levels of depressed mood (Gatt et al. (brainnet.net)
  • Intra-individual variability of response times (RTisv) is considered as potential endophenotype for attentional deficit/hyperactivity disorder (ADHD). (frontiersin.org)
  • Two SNPs in GRM7 (rs2069062 and rs2014195) were significantly associated with antipsychotic response in candidate gene analysis, as were two SNPs in the human glutamate receptor delta 2 ( GRID2) gene (rs9307122 and rs1875705) in genome-wide association analysis. (nature.com)
  • Furthermore, individuals with the 3-locus genotype pattern (T;T)-(T;T)-(T;T) for SNPs rs1045642 , rs2032582 and rs1128503 , respectively, had an approximately 5-fold chance of requiring the 'higher' methadone dose, while individuals heterozygous for these three SNPs have an approximately 3-fold chance of stabilizing at the 'lower' methadone dose (point-wise p-value = 0.026). (snpedia.com)
  • By linear regression analysis, 7 SNPs (4 in PPARA , 2 in PPARGC1A , 1 in PPARG ) were significantly associated with the latent LVDF trait, whereas a range of 0-4 SNPs were associated with each of the 14 measured echocardiography-derived endophenotypes. (beds.ac.uk)
  • Using a genome-wide genotype data set (~550,000 SNPs), we performed a genome-wide linkage scan for IOP, CCT, and VCDR adopting a quantitative approach in SOLAR. (utrgv.edu)
  • For localized quantitative trait locus (QTL) signals, we screened all SNPs within the 1-LOD (95% confidence) interval using the classical measured genotype approach to association analysis and allowing for non-independence amongst the pedigree members. (utrgv.edu)
  • Delong R (2007) GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features, with or without oculocutaneous albinism. (evmedreview.com)
  • Xu H, Cheng R, Juo SH, Liu J, Loth JE, Endicott J, Gilliam C, Baron M. Fine mapping of candidate regions for bipolar disorder provides strong evidence for susceptibility loci on chromosomes 7q. (uchicago.edu)
  • These markers, generically called "endophenotypes" constitute a more "direct" expression of the gene effect, since they conceptually lie between the gene and the disorder and - in consequence - are influenced by fewer genetic and environmental variables than the disorder itself. (frontiersin.org)
  • One way to study the endophenotypes is to focus on a specific genetic alteration that is associated with a psychiatric disorder. (theconversation.com)
  • Neuropsychological endophenotypes in attention-deficit/hyperactivity disorder: a review of genetic association studies. (carbocation.com)
  • In addition, an emphasis on possible biological mechanisms of disease has positively influenced the design of behavioral assessment tools, increasing their utility as phenotyping tools, which provide endophenotypes that can be mapped to genotypic data. (vanderbilt.edu)
  • Methodologies enabling the integration of disparate data sources (genotyping and neuroimaging or behavioral) must be investigated in order to harness the power inherit in their complexity. (vanderbilt.edu)
  • First, the article illustrates how behavioral-genetic methods are being newly applied to detect the best candidates for genuine environmental causes among the many risk factors for antisocial behavior. (psu.edu)
  • Certain endophenotypes are thought to precede behavioral symptoms. (theconversation.com)
  • The concept of endophenotype comprises hereditary characteristics of human body and psyche, correlating with behavioral (psychological) displays of normal functioning and mental disorders. (psyjournals.ru)
  • The autism associated gene MET tyrosine kinase has been implicated in many behavioral domains and endophenotypes of autism, including abnormal neural signaling in human sensory cortex. (jneurosci.org)
  • Neuropsychological and neuroimaging measures that distinguish between BPI patients with and without history of psychosis (Aim 2) and their siblings (Aim 3) will be considered potential endophenotypes for psychosis. (grantome.com)
  • An additional "DRD4-genotype" × "clinical status" interaction was present for τ ( p = 0.014) reflecting a possible severity factor. (frontiersin.org)
  • The size of the study, the availability of biological specimens and the clinical data collection together with the detailed and complete epidemiological questionnaire make this a unique national resource for investigation of the missing heritability of breast cancer, by taking into account environmental and life style factors and stratifying data on endophenotypes to decrease genetic heterogeneity. (biomedcentral.com)
  • The first aim of this study is to integrate candidate markers of clinical depression in the same sample of participants to determine whether these markers are able to explain observed depression severity. (brainnet.net)
  • The second aim of this study is to explore the proposal that specific genotypes and their interaction impact on neural pathways to influence cognitive and emotional features in patients with clinical depression rather than individuals with subclinical levels of depressed mood. (brainnet.net)
  • From among this set, a subset of 1500 individuals (300 families and 300 controls) will be assessed on several additional assessments [detailed clinical assessments, endophenotype measures (neuroimaging- structural and functional, neuropsychology, psychophysics-electroencephalography, functional near infrared spectroscopy, eye movement tracking)], with the intention of conducting repeated measurements every alternate year. (biomedcentral.com)
  • In the future, endophenotypes might let us detect who is susceptible to psychiatric illness before clinical symptoms develop. (theconversation.com)
  • Mariutina T.M. Endophenotypes: multiplicity of variants and possible interpretations [Elektronnyi resurs]. (psyjournals.ru)
  • The 5-HTTLPR promoter repeat variant of the SLC6A4 gene is perhaps the most widely studied of all the common variants that were investigated in MDD using the candidate gene approach. (edu.mk)
  • Rare variants of great affect would appear to be the most likely candidates, especially in families with a greater number of affected members, a recognizably Mendelian pattern of inheritance, and early disease onset. (edu.mk)
  • Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene. (snpedia.com)
  • In this paper, we first review how most large-scale neural models are unable to address atypical low-level perceptual functioning in autism, and then suggest how condition-specific, local neural endophenotypes (described in our companion paper) can be incorporated into causal models to infer target candidate gene or gene clusters that are implicated in autism's pathogenesis. (ed.gov)
  • The use of quantitative endophenotype also may give important biological information in regards to when and by what mechanisms a given gene variant begins to exert a disease-associated impact. (springer.com)
  • The recent advent of new technologies allows assaying and quantifying biological intermediates (hereafter endophenotypes) which are now readily measurable at a large scale across diverse individuals. (g3journal.org)
  • Homozygotes AA at rs6265 (BDNF), TT at rs16917234 (BDNF), and CC at rs508448 (OPRD1) also appeared as risk factors for the endophenotype earlier age of onset for heroin use. (cdc.gov)
  • High-risk adolescents ( n = 401) were genotyped for Val66Met BDNF and 5-HTTLPR . (pubmedcentralcanada.ca)
  • Increased risk for subsequent depression was found in carriers of the Val66Val genotype in BDNF with higher morning waking cortisol. (pubmedcentralcanada.ca)
  • We performed a whole-genome association study on alpha (α), beta (β), and theta (θ) EEG power in a Native American cohort of 322 individuals to take advantage of the genetic and en- vironmental homogeneity of this population isolate. (speakerdeck.com)
  • In a study of 2 populations of breast cancer patients (2,000+ patients), increased risk was associated with rs4680 (G;G) genotypes in both the Ontario [odds ratio 2.22, CI: 1.49-3.28] and Finland [OR 1.73, CI: 1.08-2.78] populations. (snpedia.com)
  • The researchers analyzed the genotypes and structural MRI brain scans of 206 healthy elderly participants in the ADNI study, using tensor-based morphometry to create 3D maps of structural brain atrophy. (alzforum.org)
  • The National Institute of Mental Health has recently begun an initiative to push researchers to study endophenotypes with a program called Research Domain Criterion (RDoC), described as an effort to study basic dimensions of functioning that underlie human behavior. (theconversation.com)
  • How do you study endophenotypes? (theconversation.com)
  • To compare the effect of FTO obesity risk alleles on BMI in patients with PCOS to unselected females of the same age range we genotyped 1,971 females from the population-based KORA-S4 study ( Kooperative Gesundheitsforschung im Raum Augsburg , Survey 4). (biomedcentral.com)
  • The review gives an idea of the role endophenotypes play in study of genetic basis of mental diseases and normal psychic activity as well as the criteria according to which they can be detected. (psyjournals.ru)
  • METHODS: A genome-wide association study was performed, followed by an independent candidate gene study, using a cohort enrolled from patients treated with off-label intravitreal triamcinolone, and handling change in IOP as a quantitative trait. (bvsalud.org)
  • Based on the association between plasma NFL and AD, we performed a genome-wide association study (GWAS) using plasma NFL as an endophenotype of AD to explore genetic factors involved in plasma NFL metabolism. (biomedcentral.com)
  • For this study, phenotypic and genotype data from 1,163 (55% female) members of the Jirel population were available. (utrgv.edu)
  • 2019. A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia . (cardiff.ac.uk)
  • They also suggest that the use of expression levels as endophenotypes in genome-wide association studies may provide a powerful approach for the identification of disease susceptibility alleles. (nih.gov)
  • PMID 17146660 ] Association of MDR1 genotypes with susceptibility to colorectal cancer in older non-smokers. (snpedia.com)
  • Thus, the project has two overlapping goals: the development of candidate endophenotypes for BPI broadly and the identification of candidate endophenotypes for psychosis. (grantome.com)
  • Markers found to be aberrant in both affected individuals (regardless of history of psychosis) and in their unaffected relatives will be considered candidate endophenotypes for BPI (Aim 1). (grantome.com)
  • have reported that in patients with ADHD, there is an association between 10/10 DAT1 genotype and increased errors on a vigilance task when compared to a compound group composed of children having the 9/9 or 9/10 genotypes [ 17 ]. (biomedcentral.com)
  • Endophenotypes are more closely related to genotype than behaviour alone and may be a possible way to stratify a population for genome-wide association studies [ 5 ]. (karger.com)
  • There should also be a genetic correlation between the disease and endophenotype: unaffected family members of affected individuals should also exhibit the endophenotype, to some extent, as they have a higher genetic load for the disease than people who are not closely related to affected individuals. (eneuro.org)
  • We propose that future studies examining shared familial etiological factors for ADHD and ASD use a family-based design in which the same phenotypic (ADHD and ASD), candidate endophenotypic, and environmental measurements are obtained from all family members. (springer.com)
  • It was based on enrichment in genetic factors of the recruited population through case selection relying on familial criteria, but also on the consideration of environmental factors and endophenotypes like mammary density or tumor characteristics to assess potential genetic heterogeneity. (biomedcentral.com)
  • Candidate gene for the chromosome 1 familial Alzheimer's disease locus. (jamanetwork.com)
  • Thus, normal and exponential RTisv components are suitable as ADHD endophenotypes. (frontiersin.org)
  • 10] Current findings from both candidate gene studies and genome-wide association studies (GWAS) have failed to find a major gene for ADHD. (thefreelibrary.com)
  • Based on these published reports, our review starts with an overview of candidate gene studies, considers ADHD endophenotypes, presents results from the first GWAS of ADHD in Chinese Han children, and concludes with a discussion of pharmacogenomics studies. (thefreelibrary.com)
  • Results are compatible with the view that SLC6A3 genotype may modulate components of executive function performance in children with ADHD. (biomedcentral.com)
  • This review will provide an overview on all available studies [family based, twin, candidate gene, linkage, and genome wide association (GWA) studies] shedding light on the role of shared genetic underpinnings of ADHD and ASD. (springer.com)
  • Candidate gene studies of ADHD: a meta-analytic review. (carbocation.com)
  • Gene expression levels as endophenotypes in genome-wide association studies of Alzheimer disease. (nih.gov)
  • The usefulness of endophenotypes for delineating the regulatory landscape of the genome and genetic dissection of complex trait variation remains underexplored in plants. (g3journal.org)
  • The startle amplitude was markedly decreased in Grin1 Rgsc174 / Grin1 + mice, whereas no significant differences between genotypes were detected in the prepulse inhibition (PPI) test. (biomedcentral.com)
  • Genotype-environment and genotype-treatment interactions are important factors determining smoking initiation, dependence and cessation outcomes. (els.net)
  • The odds ratio (OR) and 95% confidence interval (CI) of Alzheimer disease (AD) association for the rs7910977 SNP were obtained using a logistic regression approach using age at diagnosis/entry, APOE 4 genotype, and sex as covariates. (nih.gov)
  • This finding, reported on April 19 in PNAS online by a collaboration led by researchers in the laboratory of Paul Thompson at University of California, Los Angeles, is one of the first published results from the genotyping component of the Alzheimer's Disease Neuroimaging Initiative (ADNI) . (alzforum.org)
  • To our knowledge, the VCDR QTL on chromosome 4 is a novel locus and does not overlap with other glaucoma endophenotypes or glaucoma disease status. (utrgv.edu)
  • Apolipoprotein E genotype in patients with Alzheimer's disease: implications for the risk of dementia among relatives. (bu.edu)
  • METHODS: Traumatic load and lifetime and current diagnosis of PTSD and COMT genotype were assessed in a sample of 424 survivors of the Rwandan Genocide living in the Nakivale refugee camp in southwestern Uganda. (uni-bielefeld.de)
  • We also found association of SGIP1 with alcohol- ism, an effect that may be mediated via the same brain mechanisms accessed by θ EEG, and which also provides validation of the use of EEG as an endophenotype for alcoholism. (speakerdeck.com)
  • This being said, a few recent studies have compared genotypes separately. (biomedcentral.com)
  • Genetic studies of nicotine addiction seek to identify drug targets for smoking cessation treatment and to improve treatments using genotype‐based personalised medicine. (els.net)
  • Future studies will require much larger sample sizes and technical advances to allow screening at larger number of candidate loci. (labome.org)
  • The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. (beds.ac.uk)
  • These results are consistent with a motor-based endophenotype of SSD that would be informative for genetic studies. (asha.org)
  • The aim of this project is to localize genetic factors influencing known glaucoma endophenotypes: intraocular pressure (IOP), central corneal thickness (CCT), and vertical cup-to-disc ratio (VCDR). (utrgv.edu)
  • These results highlight the importance of continued evaluation of genetic factors influencing glaucoma endophenotypes in under-studied populations, such as the Jirels, as new information may be elucidated. (utrgv.edu)
  • White matter hyperintensities (WMH) are a common radiographic finding and may be a useful endophenotype for small vessel diseases. (cdc.gov)
  • The article describes the definite signs of the levels, which can be regarded as poten tial endophenotypes for a number of psychic diseases and for a normal intellect. (psyjournals.ru)
  • This underpins the suggested polygenetic nature of psychiatric disorders [ 4 ] and implies the need for endophenotypes that are seen as an intermediate step between genotype and behaviour. (karger.com)
  • Another positional candidate gene of note is SCD5 (Stearoyl-CoA desaturase 5), which is shown to suppress neurite outgrowth, a marker of neuronal differentiation. (utrgv.edu)
  • Combinatorial integration of functional genomics experimental results revealed a single QTL positional candidate gene in one of the loci common to both preference and withdrawal. (genetics.org)
  • The full cohort with plasma NFL and genotype data included 578 subjects. (biomedcentral.com)
  • The families will be assessed: 1) To compare neuro-endophenotype measures between patients, first degree relatives (FDR) and healthy controls. (biomedcentral.com)
  • Within families, the endophenotype must be more common in ill family members than in healthy family members. (theconversation.com)
  • Healthy children carrying the risk-genotype in ERBB4 and/or with FH had cortical measures resembling those reported in SCZ or BPD. (springer.com)
  • And knowing how endophenotypes contribute to these disorders could lead to precision medicine treatments. (theconversation.com)
  • Frequency distribution of P values showed a greater proportion of significant associations with the latent LVDF trait than for the measured endophenotypes, suggesting that analyses of the latent trait improved detection of the genetic underpinnings of LVDF. (beds.ac.uk)
  • Children with the 9/10 genotype exhibited, on average, a poorer performance on all four measures compared to children with the 10/10 genotype. (biomedcentral.com)
  • Using an endophenotype-based approach, we identified rs7943454 as a new AD risk locus. (biomedcentral.com)
  • But the endophenotype must be more common among nonaffected relatives of people with the associated illness than among the general population. (theconversation.com)
  • The ERBB4 -TT-risk genotype children with no FH had subtle cortical changes across the age span, primarily located in the left temporal lobe and superior parietal cortex. (springer.com)
  • Here we aimed to identify cortical endophenotypes for anxiety-depression. (eneuro.org)
  • These data provide a new mechanism for the loss of inhibition and subsequent abnormal excitation/inhibition balance and potential molecular candidates for treatment or prevention. (jneurosci.org)
  • The (A;A) genotype was also more common, but statistically not that significantly, in venous thrombosis patients (OR 1.61, CI: 0.97-2.65], p=0.06) compared to control subjects. (snpedia.com)
  • Due to the relatively small frequency of the 9/9 genotype in the general population and to the consequently small sample sizes generally acquired for this genotype, 10/10 genotype groups are usually compared to a combined group of subjects with the 9/9 and 9/10 genotypes (as well as other very rare genotypes). (biomedcentral.com)
  • In a proportion of subjects, we expect these neuro-endophenotypes to progress over time and to predict treatment outcome. (biomedcentral.com)