Quantitative genetic predisposition to disease. Medical search. Frequent questions

A catalog of genetic loci associated with kidney function from analyses of a million individuals. (ox.ac.uk)
We carried out an expression quantitative trait loci (eQTL) study of primary human osteoblasts (HOb) derived from 95 unrelated donors of Swedish origin, each represented by two independently derived primary lines to provide biological replication. (nih.gov)
Here, we investigated whether trans-expression quantitative trait loci (eQTL) associations identified in whole blood contribute to variance in complex traits by determining (1) whether genome-wide significant (GWS) single-nucleotide polymorphisms (SNPs) were enriched for trans-eQTL (including trans-only eQTL), and (2) whether the genomic regions surrounding associated trans-genes were enriched for statistical associations in the relevant GWAS. (ox.ac.uk)
Mapping expression quantitative trait loci (eQTL), we identify 417 response eQTLs (reQTLs) with varying effects between conditions. (cipsm.de)
Finally, we uncover reQTL effects in multiple GWAS loci and show a stronger enrichment for response than constant eQTLs in GWAS signals of several autoimmune diseases. (cipsm.de)
Combined GWAS and exome analyses of metabolites detected by high-resolution 1H-NMR is a robust approach to uncover metabolite quantitative trait loci (mQTL), and the likely causative variants in these loci. (ox.ac.uk)
Using genetic prediction from known complex disease Loci to guide the design of next-generation sequencing experiments. (ox.ac.uk)
In the process called quantitative trait loci (QTL) mapping, attempts are made to find significant correlations between marker alleles and the phenotypic variation, or disease state. (bmj.com)
Screening for DSS colitis (Dssc) loci revealed quantitative trait loci (QTL) on Chr 5 (Dssc1) and Chr 2 (Dssc2). (jax.org)
Possible Dssc candidate genes are discussed in terms of current knowledge of inflammatory bowel disease susceptibility loci in humans. (jax.org)
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (ox.ac.uk)
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (ckbiobank.org)
We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. (liverpool.ac.uk)
These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. (liverpool.ac.uk)
Several SNPs fall close, or are linked by expression quantitative trait locus to lipid-metabolism loci including CYP26A1. (usda.gov)
The purpose of this study was to identify 30 genetic loci underlying elevated IOP using HS rats. (nih.gov)
We also 36 mapped expression quantitative trait loci (eQTLs) in HS rat eye tissue and discovered a cis-eQTL for Ctsc 37 among our significant loci. (nih.gov)
Gene mapping was obtained based on genomic position and expression quantitative trait loci, and a gene-set network enrichment analysis was performed. (bvsalud.org)
Genetic predisposing loci outside the HLA region are also being discovered which is providing new insights into the mechanisms of the ADRs. (incob2019.org)
This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)
To identify putative causal variants and establish their biological relevance, we did fine-mapping analyses and expression quantitative trait loci (eQTL) analyses, using fibroblasts from healthy donors (n=79) and tenosynovium samples from patients with carpal tunnel syndrome (n=77). (ox.ac.uk)

The degree of sharing of transcriptional dysregulation is related to polygenic (single-nucleotide polymorphism-based) overlap across disorders, suggesting a substantial causal genetic component. (mssm.edu)

Predisposition is the capacity humans are born with to learn things such as language and concept of self. (wikipedia.org)
Noroviruses also demonstrate a unique genetic susceptibility related to secretor histo-blood group antigens, so not all humans are equally susceptible to norovirus infection. (cdc.gov)

The common genetic variants associated with complex traits typically lie in noncoding DNA and may alter gene regulation in a cell type-specific manner. (nih.gov)
Here, we set out a GWAS for metabolite quantitative traits in serum, followed by exome sequence analysis to zoom in on putative causal variants in the associated genes. (ox.ac.uk)
A central focus of complex disease genetics after genome-wide association studies (GWAS) is to identify low frequency and rare risk variants, which may account for an important fraction of disease heritability unexplained by GWAS. (ox.ac.uk)
However, little is known about how genetic variants impart brain dysfunction or pathology. (mssm.edu)
Genome-wide association studies have identified 11 common variants convincingly associated with coronary artery disease (CAD)¹⁻⁷, a modest number considering the apparent heritability of CAD⁸. (ckbiobank.org)
We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. (ox.ac.uk)
Discussing the mechanisms of UTR regulation, the role of genetic variants in modulating RNA processing, and protein production in human disease. (advancedsciencenews.com)
In the last decade, Genome Wide Association Studies (GWAS) have provided many robust associations between genetic variants and the risk of numerous complex diseases. (advancedsciencenews.com)
Technical advances in DNA-mapping, mainly due to the availability of high-quality genotyping microarrays and large-scale human genome sequencing, have allowed the identification by GWAS of a large number of genetic variants regulating the level of numerous health-related quantitative traits. (advancedsciencenews.com)
Hence, approaches that are based on the search for such genetic associations, coincident between traits and diseases, have an added dimension to localize and ultimately pinpoint causal genetic variants, and give clues to their mechanisms. (advancedsciencenews.com)
This is vital because only ≈4% of the total GWAS-identified variants result in coding differences of a protein product and, in even fewer cases, is the link between a coding variant and mechanism contributing to the disease immediate. (advancedsciencenews.com)
Notably, among all the thousands of genetic variants discovered so far by GWAS, 3.7% of them are located in the untranslated regions. (advancedsciencenews.com)
2017). The idea is to explore the large spectrum of possibilities for how variants can act outside of the traditional mendelian "gene-protein-disease" paradigm, that represents only a small part of the story of how complex traits are regulated. (advancedsciencenews.com)
In summary, we have demonstrated that the use of functional genomics and Big Data can identify genetic variants of functional significance that can be used to better predict an individual's risk for CVD and T2DM. (usda.gov)
In summary, GWAS using HS rats is a powerful method for 40 identifying genome regions that harbor variants responsible for the variation in quantitative traits, such as IOP. (nih.gov)
Genome-wide association studies have contributed extensively to the discovery of disease-associated common variants. (bvsalud.org)
We report a genome-wide association study of 2394 cases and 2393 controls for age-related macular degeneration (AMD) via whole-genome sequencing, with 46.9 million genetic variants. (bvsalud.org)
Variants in the GAS5 promoter region have been reported to be linked to mutiple diseases. (hindawi.com)
In an analysis of quantitative brain magnetic resonance imaging (MRI) data from 51,665 individuals in various countries, the scientists identified 306 genetic variants thought to influence the structure of key brain regions. (fapesp.br)
They show that changes in the architecture of the cerebral cortex as well as genetic variants can predispose individuals to certain diseases," Cendes said. (fapesp.br)
Here we examine the homozygous and heterozygous effects of 44,370 coding variants on 2,444 disease phenotypes using data from the nationwide electronic health records of 176,899 Finnish individuals. (nature.com)
In particular, we find variants that are known to cause diseases with recessive inheritance with significant heterozygous phenotypic effects. (nature.com)
Similarly, we find presumed benign variants with disease effects. (nature.com)
Our results show how biobanks, particularly in founder populations, can broaden our understanding of complex dosage effects of Mendelian variants on disease. (nature.com)
Identifying variants that influence disease risk only in the homozygous state (recessive inheritance) is particularly challenging, as the square of variant frequencies means that the homozygous state is often exceedingly rare. (nature.com)
As a result, the Finnish population is characterized by higher rates of DNA stretches with a common origin 6 , 7 carrying particular sets of genetic variants. (nature.com)
This leads to higher rates of homozygosity, and increases the chance occurrence of pathogenic variants in a homozygous state that lead to diseases with recessive inheritance. (nature.com)
The higher allele frequencies of deleterious founder variants increases the statistical power for detecting disease associations. (nature.com)
For common genetic variants, early genome-wide association studies (GWASs) found that additive models captured most genotype-phenotype associations, including those with non-additive (also called dominance) effects 17 . (nature.com)
Recently two variants in PARIS were identified in early onset Parkinson's disease in Chinese providing a genetic link of PARIS to PD 7 . (nature.com)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)

Human nature Nature versus nurture Behavioral genetics Predispositioning Theory Psychiatric genetics Gene-environment correlation Eugenics Eggshell skull MODY Allergy Oncogene Quantitative trait locus Genetic privacy What does it mean to have a genetic predisposition to a disease? (wikipedia.org)
The CAD-associated SNP in the PDGFD locus showed tissue-specific cis expression quantitative trait locus effects. (ckbiobank.org)
The novel intergenic variant rs10750836 exhibited an expression quantitative trait locus effect on the TPCN2 gene in immune cells. (bmj.com)
We used a functional genomics methodology to interrogate human chromatin immunoprecipitation-sequencing, genome-wide association studies, and expression quantitative trait locus data to inform selection of candidate functional single nucleotide polymorphisms (SNPs) falling in PPARgamma motifs. (usda.gov)
A screen against the MuTHER expression quantitative trait locus data revealed 8 of these were significantly associated with altered gene expression in human adipose, more than would be expected by chance. (usda.gov)
Using molecular markers and statistical methods-quantitative trait locus (QTL) analysis-genes that cause complex human diseases can be identified in mouse strains. (medicalxpress.com)

In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem, which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. (wikipedia.org)
Such patients probably have the same disease process as patients with type 1 diabetes in that they have similar HLA genetic susceptibility as well as autoantibodies to islet antigens, low insulin secretion, and a higher rate of progression to insulin dependency. (diabetesjournals.org)
There is evidence that, although incidence is almost always associated with environmental factors such as smoking or occupational exposure, susceptibility has a genetic component with early onset lung cancer following Mendelian inheritance. (bmj.com)
Genetic analysis of susceptibility to dextran sulfate sodium-induced " by M Mahler, I J. Bristol et al. (jax.org)
Genetic analysis of susceptibility to dextran sulfate sodium-induced colitis in mice. (jax.org)
Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution. (liverpool.ac.uk)
In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility. (ox.ac.uk)
In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
These SNPs, however, are still thought to account for less than half of all genetic susceptibility to IS, with a number of yet to be discovered genes also contributing to the development of IS. (hindawi.com)
However, the genes and the genetic networks that account for the increased susceptibility to CKD progression remain mostly unidentified. (trainckdis.eu)
Shared genetic susceptibility between trigger finger and carpal tunnel syndrome: a genome-wide association study. (ox.ac.uk)

Hypothesising that the co-occurrence of trigger finger and carpal tunnel syndrome might be explained by shared germline predisposition, we aimed to identify a specific genetic locus associated with both diseases. (ox.ac.uk)

Likewise, we observe no enrichment for genetic associations with the GWAS phenotype in the regions surrounding the linked trans-genes, with the exception of rheumatoid arthritis. (ox.ac.uk)
When a genetic variant predisposing for a disease also regulates another phenotype, this suggests the phenotype could be involved in the disease predisposition. (advancedsciencenews.com)
Alteration of these regulatory mechanisms can modify molecular pathways and cellular processes, thus affecting phenotype, disease onset, and possibly even disease outcome. (advancedsciencenews.com)
The specific objectives of ESR4 project will be to 1) better phenotype the kidney of the 16 strains of mice and characterize the cellular events that protect kidneys from lesion development after UUO using quantitative PCR, immunohistochemistry and intravital microscopy, 2) identify the candidate genes that predispose to either renal deterioration or renal protection after UUO by using haplotype association mapping, 3) validate the candidate modifiers using the CRISPR/Cas9 technology. (trainckdis.eu)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

A common LPA null allele associates with lower lipoprotein(a) levels and coronary artery disease risk. (ox.ac.uk)
OBJECTIVE: Increased levels of lipoprotein(a) are a highly heritable risk factor for coronary artery disease (CAD). (ox.ac.uk)
APPROACH AND RESULTS: The LPA null allele (rs41272114) was genotyped in the PROCARDIS (Precocious Coronary Artery Disease) case-control cohort (4073 CAD cases and 4225 controls). (ox.ac.uk)
Coronary Artery Disease (C4D) Genetics Consortium None. (ckbiobank.org)

Trans-eQTLs have been implicated in complex traits and common diseases, but many were initially identified on the basis of having an effect in cis, and there has been no assessment of the significance of the overlap in relation to chance expectations. (ox.ac.uk)
Taken together, these results suggest little evidence for the role of blood-based trans-eQTL in complex traits and disease, although this may reflect the finite size of currently available data sets and our findings may not hold for trans-eQTLs in more trait-relevant tissues. (ox.ac.uk)
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. (ox.ac.uk)
Metabolite quantitative traits carry great promise for epidemiological studies, and their genetic background has been addressed using Genome-Wide Association Studies (GWAS). (ox.ac.uk)
Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. (liverpool.ac.uk)
However, the genetic contribution to complex traits is still largely difficult to interpret. (bvsalud.org)

apolipoprotein(a) isoform size was estimated using sodium dodecyl sulfate-agarose gel electrophoresis and a high-throughput quantitative polymerase chain reaction-based method. (ox.ac.uk)
An additive allelic model of apolipoprotein(a) isoform size, refined by null allele genotype and quantitative polymerase chain reaction values, showed a sigmoid relationship with lipoprotein(a) levels, with baseline levels for longer isoform alleles and progressively higher levels of lipoprotein(a) for shorter isoform alleles. (ox.ac.uk)
Incorporating rs41272114 refined apolipoprotein(a) isoform size typing obtained by immunoblotting and quantitative polymerase chain reaction. (ox.ac.uk)
The placenta mRNA levels and cell-specific localization of iNOS were determined by quantitative polymerase chain reaction, western blotting, and immunohistochemical analysis. (medscimonit.com)

A systematic review and quantitative assessment of methylation biomarkers in fecal DNA and colorectal cancer and its precursor, colorectal adenoma. (cdc.gov)
Diagnostic Accuracy of FOBT and Colorectal Cancer Genetic Testing: A Systematic Review & Meta-Analysis. (cdc.gov)

To identify genetic determinants of quantitative spirometric phenotypes, an autosomal 10-cM genomewide scan of short tandem repeat (STR) polymorphic markers was performed in 72 pedigrees (585 individuals) ascertained through probands with severe early-onset COPD. (nih.gov)
Multipoint variance-component linkage analysis (using SOLAR) was performed for quantitative phenotypes, including FEV(1), FVC, and FEV(1)/FVC. (nih.gov)
Our results suggest that primary cells relevant to disease phenotypes complement traditional approaches for prioritization and validation of GWAS hits for follow-up studies. (nih.gov)
We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders-autism, schizophrenia, bipolar disorder, depression, and alcoholism-compared with matched controls. (mssm.edu)
Furthermore, the review gives an overview of the GWAS results linked to UTR regions focusing on an example of a genetic variant in the 3'UTR of TNFSF13B, recently reported to affect the risk of autoimmune diseases and related immune phenotypes (Steri et al. (advancedsciencenews.com)

Due to its 24 complex, multifactorial nature, genetic predisposition is not completely understood thus, there is an urgent 25 need for additional investigations into the genetic regulation of IOP. (nih.gov)
Endometriosis is a complex disease and its etiology is multifactorial, characterized by the presence of endometrial tissue outside the uterine cavity especially in the pelvic peritoneum and ovaries, involving genetic predisposition, environmental factors, anatomical, endocrine and immunological changes. (usp.br)
First, these are multifactorial diseases that characterized by destruction of alveolar walls. (cdc.gov)

The genetic determinants of lipoprotein(a) levels are mainly because of genetic variation in the apolipoprotein(a) gene (LPA). (ox.ac.uk)
To distinguish between genetic and environmental determinants of risky financial behavior, the literature has focused on twins studies.4 Cesarini et al. (lu.se)

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. (ox.ac.uk)
Background Cardiovascular disease and type 2 diabetes mellitus represent overlapping diseases where a large portion of the variation attributable to genetics remains unexplained. (usda.gov)
Polygenic variation unrelated to disease contributes to interindividual variation in baseline white blood cell (WBC) counts, but its clinical significance is undefined. (bvsalud.org)
However, a genetic variation leads to the formation of fewer of these proteins. (medicalxpress.com)
The reason for a lower expression in mice with a fatty liver is a small genetic variation. (medicalxpress.com)

Cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM) are major age-related diseases and both of them share environmental and genetic components. (usda.gov)

Collegelearners afford you unrestricted access to a litany of relevant information on best universities for genetics in the world, best universities for genetics in europe, best universities for genetics uk, best country to study molecular biology, best colleges for genetic engineering in usa, best genetics in the world, best genetics lab in the world, molecular biology and genetics and so much more. (infolearners.com)
Established in 1981, the Department of Genetics at Harvard University has cemented its position as one of the top genetics/Genetic Engineering colleges in the world, if not the best. (infolearners.com)
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics 1 . (nature.com)

Obesity is heritable and predisposes to many diseases. (essex.ac.uk)
To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. (essex.ac.uk)
NAFLD is often associated with other diseases such as obesity, type 2 diabetes, high blood pressure (arterial hypertension) and a fat metabolism disorder (dyslipidemia). (medicalxpress.com)

Chronic obstructive pulmonary disease (COPD) is a common, complex disease associated with substantial morbidity and mortality. (nih.gov)

Finally, through Mendelian randomization, we provide evidence of shared genetic pathways linking blood cell indices with complex pathologies, including autoimmune diseases, schizophrenia, and coronary heart disease and evidence suggesting previously reported population associations between blood cell indices and cardiovascular disease may be non-causal. (ox.ac.uk)

Cancer genetic health communication in families tested for hereditary breast/ovarian cancer risk: a qualitative investigation of impact on children's genetic health literacy and psychosocial adjustment. (cdc.gov)
Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer. (cdc.gov)
Pointed questioning may be required to reveal evidence of a hereditary disease . (symptoma.com)

In Egypt, 60 breast cancer patients, derived from 60 families, were selected for molecular genetic testing of BRCA1 and BRCA2 genes. (biomedcentral.com)
However, for this complex disease not only one gene but rather the interactions of different genes and epigenetic factors are responsible. (medicalxpress.com)
In recent years, our understanding of genetic predisposition to PD has advanced vastly, including causative mutations in the genes encoding α-synuclein, LRRK2, parkin, PINK1, and DJ-1 just to name a few 5 . (nature.com)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)

In consequence, there is an enrichment of 36 specific Mendelian genetic diseases such as congenital nephrotic syndrome, Finnish type (CNF) 8 in certain areas of Finland today that show mostly recessive inheritance. (nature.com)

A key breakthrough came around 1990 when the first genetic sequences of these novel viruses were decoded, opening the way for new molecular diagnostics and reverse transcription PCR (RT-PCR). (cdc.gov)
Despite being a relatively common disease, the precise molecular mechanisms for the onset of ischemic stroke (IS) are still incompletely understood, with both environmental and genetic factors being implicated in this disease in a complex manner. (hindawi.com)
Sixteen samples of endometrium of women without endometriosis, in the same phase of the menstrual cycle were collected to control (C). The study was conducted through molecular biology techniques such as reverse transcription (RT-PCR) and quantitative gene expression analysis (real-time-time PCR). (usp.br)

In this issue of the journal, Van Dyke and colleagues have shown that the supra-typic genetic marker, HLA-DPB1(E69), has an additive and independent contribution with beryllium exposure to cell-mediated beryllium sensitisation and chronic beryllium disease in a cohort at a US nuclear weapons plant. (cdc.gov)
Additionally, despite of increasing evidence regarding the contribution of epigenetic mechanisms in the pathogenesis of different diseases, the role of microRNAs, DNA methylation, and histone modification in NAFLD pathogenesis still needs to be elucidated. (molecularmetabolism.com)
Both types of ADRs have a genetic predisposition, but the quantitative contribution of genetic vs . non-genetic factors varies with the type of reaction, the drug implicated and the patient's clinical co-morbidities. (incob2019.org)

Nutrition habits and the consumption of alcoholic beverages have a significant effect on the intraspecific qualitative and quantitative diversity of the intestinal microbiome. (romj.org)
The implementation research consisted of a quantitative analysis looking at the completeness of the records submitted by nurses and doctors of the PHC centers to MOPH along with a qualitative analysis of the transcribed interviews and FG discussions with healthcare providers and ministerial leaders regarding the principles, problems and solutions for CVD service. (who.int)

We show that genetic risk prediction can select unrelated cases from large cohorts who are enriched for unknown risk factors, or multiply-affected families that are more likely to harbor high-penetrance risk alleles. (ox.ac.uk)
We explore several study design scenarios using both simulated and real data, and show that in many cases genetic risk prediction can provide significant increases in power to detect low-frequency and rare risk alleles. (ox.ac.uk)

We investigated the clinical consequences of a genetic predisposition toward lower WBC counts among 89,559 biobank participants from tertiary care centers using a polygenic score for WBC count (PGSWBC) comprising single nucleotide polymorphisms not associated with disease. (bvsalud.org)
The other dataset comprised whole-genome sequences of the participants and tissue samples deposited with brain banks, enabling the researchers to analyze genetic markers such as single nucleotide polymorphisms (SNPs), which are variations in DNA sequences that affect only one base (adenine, cytosine, guanine or thymine) and can be used to compare different individuals' genomes. (fapesp.br)

Yet little is known about the genetic predisposition to developing gastrointestinal symptoms in patients with young-onset and late-onset PD or about the environmental risk factors for constipation. (michaeljfox.org)
In patients with a predisposition, tinea versicolor may chronically recur. (medscape.com)
This subset of patients records a higher rate of recurrence and longer duration of disease. (medscape.com)
In patients with clinical disease, the organism is found in both the yeast (spore) stage and the filamentous (hyphal) form. (medscape.com)
Results - The diet of patients with ulcerative colitis from before the first signs of the disease was characterized by rare consumption of fresh and cooked vegetables and of fruits in small portions but high consumption of sugar with tea and/or coffee compared to the healthy respondents. (romj.org)
Patients with ulcerative colitis did not tolerate milk and fermented milk products before the disease onset. (romj.org)
Uptake of testing for germline BRCA mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods. (cdc.gov)
Genetic associations with clinical data were tested in GpCRC patients. (bvsalud.org)
Although small, our selected patient cohort shows an important incidence of deleterious and suspected deleterious BRCA1/2 mutations suggesting that genetic testing should be offered to patients with certain high risk features. (biomedcentral.com)
The remaining were patients with conditions such as insomnia, depression, attention-deficit/hyperactivity disorder (ADHD), epilepsy, and Parkinson's disease. (fapesp.br)
Many PIDD patients have a family history of immunodeficiency or associated autoimmune disease , but may not even be aware of it. (symptoma.com)
Early detection of the disease allows the clinician to reduce the immunosuppression and the possibility of graft loss in over 80% of the patients [ 7 , 10 ]. (biomedcentral.com)
Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)

The latter has met with a lot of success because the effect size of pharmacogenomic biomarkers is greater than the effect size observed for complex diseases. (incob2019.org)

airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC). (nih.gov)
Although the Van Dyke paper in this issue did not have sufficient numbers to analyse beryllium sensitisation and beryllium disease cases separately, it showed compatible results, with the beryllium-sensitised cases having much lower indices of beryllium exposure compared with the chronic beryllium disease cases. (cdc.gov)

We predict that the relationship between constipation and genetic and environmental risk factors will be different for young-onset and late-onset PD. (michaeljfox.org)
Our study will identify a possible subgroup of individuals that have a different prognosis or disease progression, and it will help us to better understand and differentiate young- versus late-onset PD. (michaeljfox.org)
Routine IHC study for SV40 in all transplanted kidney biopsy samples with new onset of allograft dysfunction, will enhance the diagnostic sensitivity of early stage disease detection. (biomedcentral.com)

Indeed, the genetic complexity of human populations and the difficulty of standardizing analyses of environmental factors in complex diseases have hampered the identification of these modifiers. (trainckdis.eu)

The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. (mssm.edu)
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. (ox.ac.uk)

The findings of statistically independent genetic and beryllium exposure risks are not surprising, since chronic beryllium disease does not occur without beryllium exposure and occurs in persons without the HLA-DPB1(E69) marker, and there is no reason to assume that genetic risk and exposure risk correlate in the workforce. (cdc.gov)
Mapping small variations in the human genome that may influence the architecture of the cerebral cortex and correlate with a predisposition to diseases such as schizophrenia, epilepsy, autism, bipolar disorder, anorexia, depression and dementia, among others, was the purpose of a study involving more than 360 scientists affiliated with 184 institutions around the world. (fapesp.br)

Of the recessive disease associations that we identify, 13 out of 20 would have been missed by the additive model that is typically used in genome-wide association studies. (nature.com)

The same approach can also be used to aid discovery of non-genetic risk factors, suggesting possible future utility of genetic risk prediction in conventional epidemiology. (ox.ac.uk)
However, the exact cellular mechanisms through which different risk factors contribute to disease risk are not completely understood. (molecularmetabolism.com)

Constipation is a common, nonmotor manifestation of Parkinson's disease (PD) that can impact the quality of life of people with the condition. (michaeljfox.org)
ZNF746) was initially identified as a novel co-substrate of parkin and PINK1 that leads to Parkinson's disease (PD) by disrupting mitochondrial biogenesis through peroxisome proliferator-activated receptor gamma (PPARγ) coactivator -1α (PGC-1α) suppression. (nature.com)
As the second most common neurodegenerative disorder worldwide with a prevalence as high as 572 people per 100,000 in the US 1 , Parkinson's disease is now referred to as a "silent epidemic" of our times. (nature.com)

Communicating Genetic Risk Information for Common Disorders in the Era of Genomic Medicine. (jax.org)
Genetic Predisposition to Childhood Cancer in the Genomic Era. (cdc.gov)
Comprehensive Genomic Profiling Identifies Novel Genetic Predictors of Response to Anti-PD-(L)1 Therapies in Non-Small-Cell Lung Cancer. (cdc.gov)

A predisposition to benign lower WBC counts was associated with an increased risk of discontinuing azathioprine treatment (n=1,466, HR=0.62 [0.44 - 0.87], p=0.006). (bvsalud.org)

This finding of statistical independence between required beryllium exposure and genetic characteristics is quantitatively consistent with an earlier finding in a small beryllia ceramics operation, and is extended by a concurrent publication in a second, larger nuclear weapons plant population. (cdc.gov)
At the same time, it is impractical to explain the occurrence of UC only by the genetic characteristics of the body, since they have remained relatively stable for hundreds of years while the incidence of IBD has increased [3]. (romj.org)
Does this have to do with pre-birth characteristics that are correlated across generations (such as genetic predisposition towards risk-taking), or is it that children learn from parents, and risk- taking behavior is acquired over one's lifetime?2 Is it nature or is it nurture? (lu.se)

Genetic testing is able to identify individuals who are genetically predisposed to certain diseases. (wikipedia.org)

The investigation was conducted under the aegis of ENIGMA (Enhancing Genetic Neuroimaging through Meta-Analysis), an international consortium dedicated to studying several neurological and psychiatric diseases. (fapesp.br)

Lifestyle changes, however, affect not only parental generation, but also their offspring, reinforcing the need for efficient preventive approaches to deal with this disease. (molecularmetabolism.com)
Asthma likely develops because of both a genetic predisposition preventive strategies designed to reduce the morbidity and mor- and exposure to environmental factors. (cdc.gov)

We characterize the dynamics of genetic regulation on early and late immune response and observe an enrichment of reQTLs in distal cis -regulatory elements. (cipsm.de)

Discover specific targets of YAP and TAZ would help us to define pathways that could be relevant to human diseases. (trainckdis.eu)

A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. (wikipedia.org)

Epidemiological and experimental studies indicate that the progression of chronic kidney disease after an initial injury is genetically determined. (trainckdis.eu)

Here we briefly review the effect of physical exercise on liver mitochondria adaptations in NAFLD, highlighting the importance of mitochondrial metabolism and transgenerational and epigenetic mechanisms in liver diseases. (molecularmetabolism.com)
e.g. inflammation, genotoxicity, and This chapter focuses on issues as- ellers, growth factors, growth factor epigenetic alterations) and can have sociated with the understanding and receptors, signal transducers, and both genetic and epigenetic origins. (who.int)

Fungi are ubiquitous airborne allergens and are important causes of human diseases, especially in the upper and lower respiratory tracts. (medscape.com)

The same diagnostics that have enabled our understanding of the high prevalence of disease worldwide have also enabled genetic fingerprinting of strains, a process critical to seeking a common source of exposure and to tracing routes of transmission back to fecally contaminated food, water, or food handlers. (cdc.gov)
We derive the frequency of an undiscovered risk allele in selected cases and controls, and show how this relates to the variance explained by the risk score, the disease prevalence and the population frequency of the risk allele. (ox.ac.uk)
Modern lifestyles, especially high-caloric intake and physical inactivity, contribute to the increased prevalence of non-alcoholic fatty liver disease (NAFLD), which becomes a significant health problem worldwide. (molecularmetabolism.com)
Nonetheless, because flow limitation may occur with occupational exposure to organic asthma and COPD are common diseases in the general popula- dusts such as cotton (byssinosis), flax, hemp, jute, sisal, and various tion, even a small increase in the percentage of prevalence due grains. (cdc.gov)
Multiple sclerosis is a common, chronic demyelinating neurological disease primarily affecting young adults, with a prevalence of ~0.1% in the Caucasian population (Miller and Leary, 2007). (medscape.com)

Trans-eQTLs identified in whole blood have limited influence on complex disease biology. (ox.ac.uk)

Previously, classical genetic studies involving cross breeding of mouse strains with differing susceptibilities have identified chromosomal areas associated with predisposition to developing spontaneous and chemically induced lung adenomas. (bmj.com)

Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures. (wikipedia.org)
Identify the targeted genetic networks responsible of the renal lesions in tubular cells expressing or not YAP and TAZ. (trainckdis.eu)

Background - Ulcerative colitis results from a complex interaction between genetic, internal (intestinal microflora) and external (environment) factors. (romj.org)
Genetic factors, of course, play an important role in the occurrence of UC [2]. (romj.org)
Genetic predisposition is one of the factors that can lead to type 2 diabetes (T2D). (molecularmetabolism.com)
However, most of the specific genetic factors involved in the individual predisposition to these diseases remain unknown. (usda.gov)
Elevated intraocular pressure (IOP) is influenced by environmental and genetic factors. (nih.gov)
The causes of this disease are manifold and include environmental as well as genetic factors. (medicalxpress.com)
Both genetic and environmental factors play a part in the development of hip dysplasia. (ufaw.org.uk)
This is the most frequent anomaly occurring in the human face 17 , where the interference of genetic and environmental factors may act either single or in association 12 . (bvsalud.org)
however, little is known about the extent to which these relationships are genetic or determined by environmental factors. (lu.se)

The study of their diet and alcohol intake was carried out using the standardized World Health Organization countrywide integrated noncommunicable diseases intervention questionnaire, known as CINDI. (romj.org)

Negative environmental influences may block the predisposition (ability) one has to do some things. (wikipedia.org)
The material in this report originated in the National Center for Environmental Health, Agency for Toxic Substances Disease Registry, Howard Franklin, MD, Director, and the Division of Environmental Hazards and Health Effects, Michael A. McGeehin, PhD, Director. (cdc.gov)

Anatomy6

Organisms6

Diseases56

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

Psychiatry and Psychology11

Phenomena and Processes72

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena2

Humanities1

Information Science6

Named Groups9

Health Care30

Geographicals7

Loci21

Polymorphism1

Humans2

Variants31

Trait locus6

Susceptibility11

Locus1

Phenotype5

Coronary Artery4

Traits6

Polymerase chain re4

Colorectal cancer2

Phenotypes5

Multifactorial3

Determinants2

Variation5

Type 2 diabet1

Genetics3

Obesity3

Chronic obstruc1

Autoimmune diseases1

Hereditary3

Genes4

Mendelian1

Molecular3

Contribution3

Qualitative2

Alleles2

Single nucleotide po2

Patients13

Biomarkers1

Indices2

Onset3

Analyses1

Polygenic2

Correlate2

Genome-wide1

Risk factors2

Parkinson's Disease3

Genomic3

Benign1

Characteristics3

Certain diseases1

Consortium1

Preventive2

Enrichment1

Pathways1

Phenotypic1

Genetically1

Epigenetic2

Human diseases1

Prevalence5

EQTLs1

Chromosomal1

Identify2

Factors9

World Health Organ1

Environmental2