AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaTechnology, Industry, AgricultureInformation ScienceNamed GroupsHealth CareGeographicals
Genetic LinkageChromosome MappingGenetic LociPedigreeLod ScoreGenetic MarkersQuantitative Trait LociGenetic HeterogeneityGenetic Diseases, InbornLinkage DisequilibriumHaplotypesConsanguinityMicrosatellite RepeatsGenes, DominantModels, GeneticGenotypePenetranceGenetic Predisposition to DiseaseGenes, RecessivePolymorphism, Single NucleotideX ChromosomeNuclear FamilyChromosomes, Human, Pair 1AllelesChromosomes, Human, Pair 16Genome-Wide Association StudyChromosomes, Human, Pair 19Molecular Sequence DataMutationPhenotypeChromosomes, Human, Pair 4Gene FrequencyChromosomes, Human, Pair 2Physical Chromosome MappingChromosomes, Human, Pair 6Base SequenceRecombination, GeneticPolymorphism, GeneticLikelihood FunctionsFounder EffectChromosomes, Human, Pair 10Chromosomes, Human, Pair 9HomozygoteGenome, HumanGenetics, PopulationMultifactorial InheritancePolymorphism, Restriction Fragment LengthRetinitis PigmentosaSpinocerebellar DegenerationsDiseaseGenetic VariationChromosomes, Human, Pair 12Chromosomes, Human, Pair 17HeterozygoteMicrophthalmosSyndromeDNA, SatelliteDNA Mutational AnalysisChromosomes, Human, Pair 13DNA ProbesHypotrichosisHeterozygote DetectionComputer SimulationCataractFamily HealthPolymerase Chain ReactionChromosomes, Human, XSequence Analysis, DNAHybrid CellsChromosomes, Human, Pair 11DNAChromosomes, Artificial, YeastChromosomes, Human, Pair 15Genetic Diseases, X-LinkedChromosomes, Human, Pair 7Amino Acid SequenceChromosomes, Human, Pair 3Chromosomes, HumanFriedreich AtaxiaBlotting, SouthernCrosses, GeneticChromosomes, Human, Pair 5Chromosomes, Human, Pair 14FamilySiblingsExonsHirschsprung DiseaseTrinucleotide Repeat ExpansionMutation, MissenseMachado-Joseph DiseaseCase-Control StudiesPakistanRestriction MappingGenetic TestingCloning, MolecularAge of OnsetModels, StatisticalGenetic Association StudiesSequence DeletionDatabases, Genetic
GenesSNPsQuantitativeGenomic lociAdditional lociMajor locusLinkage disequilibriumIdentifying loci associatedAlzheimer'sGenome-wide asCoeruleusVariantsPathwaysCoronary arteryGWASOcular diseasesMutationsParkinson's DiseaseChromosome 10Kidney functionHeterogeneity17q11-q12ResistanceChronicMethylationRelevanceGenetic varianceAssociationsMethodsPopulationsOMIMRiskIdentificationMechanismsSignificantlyAlzheimer DiseaseFunctionalEpistasisComplexMarkerDisorderProteinsAetiologyAnalysisRenal diseaseHaplotypeProtein
Genes20
  • DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease. (nature.com)
  • Molecular mechanisms involved in N. meningitidis capsule biosynthesis have also been identified, and genes involved in this process and in cell surface translocation are clustered at a single chromosomal locus termed cps . (cdc.gov)
  • The use of multiple names for some of the genes involved in capsule synthesis, combined with the need for rapid diagnosis of serogroups commonly associated with invasive meningococcal disease, prompted a requirement for a consistent approach to the nomenclature of capsule genes. (cdc.gov)
  • Genes within this locus are divided into 6 regions: A-D, D′, and E ( 16 ). (cdc.gov)
  • 5000 SNPs were simulated as disease genes which increased penetrance from 0.01 to 0.02 in a sample of 400 cases and 400 controls. (lancs.ac.uk)
  • NEW YORK (GenomeWeb) - The severity of malaria infections caused by Plasmodium falciparum in African children appears to be partly influenced by a locus falling near genes coding for glycophorin proteins involved in red blood cell invasion. (genomeweb.com)
  • This new resistance locus is particularly interesting because it lies so close to genes that are gatekeepers for the malaria parasite's invasion machinery," co-corresponding author Dominic Kwiatkowski, with the Wellcome Trust Sanger Institute and the Wellcome Trust Centre for Human Genetics, said in a statement. (genomeweb.com)
  • After accounting for known malaria risky loci and other potential confounders such as parasite diversity, they narrowed in on a suspicious new chromosome 4 site falling between the FREM3 gene and the GYPE, GYPB, and GYPA genes, which code for glycophorin proteins expressed in the red blood cell membrane. (genomeweb.com)
  • In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
  • We applied novel statistical tools for polygenic architectures to investigate if there are common genes for depression, coronary artery disease and cardiovascular risk factors (body mass index, blood pressure, lipids, type 2 diabetes and c-reactive protein). (plos.org)
  • The detection of causal genes for diseases impacted by locus heterogeneity is difficult with genetic analysis methods such as linkage analysis and genome sequencing. (wikipedia.org)
  • These methods rely on comparison of affected family members, but when different family members have different disease-causing genes, such genes may not be accurately identified. (wikipedia.org)
  • CONTEXT: Genome-wide association studies (GWAS) have recently identified CLU, PICALM, and CR1 as novel genes for late-onset Alzheimer disease (AD). (ox.ac.uk)
  • OBJECTIVES: To identify and strengthen additional loci associated with AD and confirm these in an independent sample and to examine the contribution of recently identified genes to AD risk prediction in a 3-stage analysis of new and previously published GWAS on more than 35,000 persons (8371 AD cases). (ox.ac.uk)
  • To explore the genetic predisposition to health-related traits of the Turkish population, we analyzed 34 genes associated with different health-related traits (for example, lipid metabolism, cardio-vascular diseases, hormone metabolism, cellular detoxification, aging and energy metabolism). (maastrichtuniversity.nl)
  • The information gained in this study can be used in deploying marker-assisted selection for foliar resistance and map-based isolation of important disease resistance genes in sorghum. (aber.ac.uk)
  • Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. (ntnu.no)
  • Several of these genes, such as TNC (near TNFSF15), CXCR6, and genes associated with IBD at the HLA locus, contained SNPs with unique association patterns with African-specific alleles. (njit.edu)
  • Immunoglobulin ( IG ) loci harbor inter-individual allelic variants in many different germline IG variable, diversity and joining genes of the IG heavy ( IGH ), kappa ( IGK ) and lambda ( IGL ) loci, which together form the genetic basis of the highly diverse antigen-specific B-cell receptors. (molepi.nl)
  • The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease. (medscape.com)
SNPs8
  • We wished to investigate the ability of different SNP chipsets to detect association with a disease and to investigate the linkage disequilibrium (LD) relationships between microsatellites and nearby SNPs in order to assess their potential usefulness to detect association. (lancs.ac.uk)
  • Sixteen single-nucleotide polymorphisms (SNPs) were genotyped at and around the G72/G30 locus, which covered a 157-kb region encompassing the entire complementary DNA sequences of G72 and G30. (nih.gov)
  • To further investigate susceptibility loci identified by genome-wide association studies, we genotyped 5,500 SNPs across 14 associated regions in 8,000 samples from a control group and 3 diseases: type 2 diabetes (T2D), coronary artery disease (CAD) and Graves' disease. (elsevierpure.com)
  • We defined, using Bayes theorem, credible sets of SNPs that were 95% likely, based on posterior probability, to contain the causal disease-associated SNPs. (elsevierpure.com)
  • In 3 of the 14 regions, TCF7L2 (T2D), CTLA4 (Graves' disease) and CDKN2A-CDKN2B (T2D), much of the posterior probability rested on a single SNP, and, in 4 other regions (CDKN2A-CDKN2B (CAD) and CDKAL1, FTO and HHEX (T2D)), the 95% sets were small, thereby excluding most SNPs as potentially causal. (elsevierpure.com)
  • Very few SNPs in our credible sets had annotated functions, illustrating the limitations in understanding the mechanisms underlying susceptibility to common diseases. (elsevierpure.com)
  • 10 Together, single nucleotide polymorphisms (SNPs) at these loci explain only 0.43% of the variance in eGFR, 10 suggesting that additional loci remain to be identified. (bioseek.eu)
  • Results: In the overall analysis, single nucleotide polymorphisms (SNPs) in 9 loci showed significant associations with protective per-allele odds ratios of 0.78-0.87 (LAMP3, BST1, and MAPT) and susceptibility per-allele odds ratios of 1.14-1.43 (STK39, GAK, SNCA, LRRK2, SYT11, and HIP1R). (uni-luebeck.de)
Quantitative9
  • We find that PM20D1 is a methylation and expression quantitative trait locus coupled to an AD-risk associated haplotype, which displays enhancer-like characteristics and contacts the PM20D1 promoter via a haplotype-dependent, CCCTC-binding-factor-mediated chromatin loop. (nature.com)
  • We developed genomic locus proteomics (GLoPro), in which we combine CRISPR-based genome targeting, proximity labeling, and quantitative proteomics to discover proteins associated with a specific genomic locus in native cellular contexts. (nature.com)
  • Two major quantitative trait loci (QTLs) for number of internal elastic lamina lesions were identified on rat chromosomes 5 and 10, with the maximum "log of the odds ratio" (LOD) scores at D5Rat119 (LOD 5.0) and at D10Mit2 (LOD 4.5), respectively, together contributing 33.5% to the genetic variance. (mcw.edu)
  • The novel intergenic variant rs10750836 exhibited an expression quantitative trait locus effect on the TPCN2 gene in immune cells. (bmj.com)
  • Construction of High-Density Genetic Map and Mapping Quantitative Trait Loci for Growth Habit-Related Traits of Peanut (Arachis hypogaea L. (frontiersin.org)
  • The quantitative trait locus (QTL) analysis of the growth habit-related traits was conducted based on phenotyping data from seven environments. (frontiersin.org)
  • Quantitative trait loci (QTL) analysis of resistance to three foliar diseases, viz. (aber.ac.uk)
  • A total of 13 stable quantitative trait loci (QTLs) were found to be highly associating to yield-related traits, including 6 for spike length (SL), 3 for thousand-kernel weight (TKW), 2 for kernel weight per spike (KWPS), and 2 for both TKW and KWPS, in at least two test environments under stripe rust stress conditions. (biomedcentral.com)
  • Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis. (bvsalud.org)
Genomic loci2
  • Locus heterogeneity occurs when mutations at multiple genomic loci are capable of producing the same phenotype (ie. (wikipedia.org)
  • Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. (ntnu.no)
Additional loci1
  • Our aim was to identify additional loci for stroke by doing a meta-analysis of genome-wide association studies. (uai.cl)
Major locus2
  • Genetic linkage analysis with marker loci indicated the major locus for eosinophilia was located at the end of the q arm region of Chromosome 19 (between D19Rat8 and telomere). (mcw.edu)
  • A second major locus was identified on chromosome 5, exhibiting a semidominant mode of inheritance, again with the BN allele being significantly associated with increased lesion number (P (mcw.edu)
Linkage disequilibrium4
  • We performed transmission/disequilibrium testing (TDT) and haplotype analysis, since a linkage-disequilibrium block was present at this gene locus. (nih.gov)
  • Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium. (ox.ac.uk)
  • Genome-wide association study (GWAS) is a powerful tool to identify loci associated to target traits based on linkage disequilibrium (LD) using natural populations. (biomedcentral.com)
  • Despite these significant findings, it is important to note that imputed data for the HLA locus may pose challenges due to high level of linkage disequilibrium and polymorphism. (who.int)
Identifying loci associated1
  • Thus, identifying loci associated with yield-related traits under stripe rust stress may provide favourable alleles and their useful markers for breeding wheat cultivars with high yield in combination with stripe rust resistance. (biomedcentral.com)
Alzheimer's19
  • Epigenetic regulation in the pathophysiology of Alzheimer's disease. (nature.com)
  • Alzheimer's disease. (nature.com)
  • Sanchez-Mut, J. V. & Gräff, J. Epigenetic alterations in Alzheimer's disease. (nature.com)
  • Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease. (nature.com)
  • Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci. (nature.com)
  • Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. (ox.ac.uk)
  • There is substantial evidence for a susceptibility gene for late-onset Alzheimer's disease (AD) on chromosome 10. (ox.ac.uk)
  • Researchers explained that the locus coeruleus is the first brain region to show tau pathology - the slow-spreading protein tangles sees early on in Alzheimer's disease. (belmarrahealth.com)
  • The neurotransmitters released by the locus coeruleus may be crucial in the prevention of Alzheimer's disease symptoms. (belmarrahealth.com)
  • Studies on mice and rats revealed that norepinephrine - the neurotransmitter released by the locus coeruleus - may help protect neurons from factors that kill cells and speed up Alzheimer's disease. (belmarrahealth.com)
  • Researchers from the Monell Center recently collaborated with the U.S. Department of Agriculture (USDA) and other institutions to do a study on odor as a biomarker for Alzheimer's disease. (belmarrahealth.com)
  • Until very recently, tau tangles in the brain were associated with Alzheimer's disease, but now a recent study out of Australia links tangle buildup in the brain to type 2 diabetes. (belmarrahealth.com)
  • According to the author of the study Dr. Velandai Srikanth, who is also an associate professor and specialist senior geriatrician at Monash University in Melbourne, diabetes may be linked to the buildup of "tangles" in the brain, separate from Alzheimer's disease. (belmarrahealth.com)
  • Using the same data, we examined the associations of plasma lipid species with Alzheimer's disease and APOE genotypes to demonstrate that lipid species partially mediate the Alzheimer's disease risk resulting from inherited APOE genotypes. (centenary.org.au)
  • These findings illustrate the value of integrative biology to investigate the genetics and lipid metabolism in the aetiology of coronary artery disease and Alzheimer's disease, with implications for other complex diseases. (centenary.org.au)
  • His research has a focus on the dysregulation of lipid metabolism associated with metabolic diseases including obesity, diabetes, cardiovascular and Alzheimer's disease, and its relationship to the pathogenesis of these disease states. (centenary.org.au)
  • The role of genetic risk markers for Alzheimer's disease (AD) in mediating the neurocognitive endophenotypes (NEs) of subjects with mild cognitive impairment (MCI) has rarely been studied. (figshare.com)
  • Restoring neuronal chloride extrusion reverses cognitive decline linked to Alzheimer's disease mutations. (medscape.com)
  • The potential of blood neurofilament light as a marker of neurodegeneration for Alzheimer's disease. (medscape.com)
Genome-wide as3
  • In the past, genome-wide association studies (GWAS) have identified an important number of risk loci associated with AD pathology 3 , but a causal relationship remains difficult to establish. (nature.com)
  • Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. (uni-luebeck.de)
  • Further genome-wide association studies in obese and diabetic Arab populations could add to our understanding of the pathophysiology, prevention and reversal of this disease. (who.int)
Coeruleus6
  • Task-related pupil dilations and locus coeruleus (LC) magnetic resonance imaging (MRI) contrast, which served as a potential window of the LC-NE functions, were assessed in younger and older adults. (jneurosci.org)
  • The locus coeruleus has been found to play an important role in maintaining cognitive function later on in life. (belmarrahealth.com)
  • Activation of the locus coeruleus-norepinephrine system by novelty and mental challenge throughout one's life may contribute to cognitive reserve. (belmarrahealth.com)
  • Locus coeruleus volume is reduced in Parkinson disease-related orthostatic hypotension. (mdsabstracts.org)
  • To test whether structural pathology of the locus coeruleus (LC) is associated with orthostatic hypotension (OH) in Parkinson disease (PD). (mdsabstracts.org)
  • Reproducibility of locus coeruleus and substantia nigra imaging with neuromelanin sensitive MRI. (mdsabstracts.org)
Variants9
  • Variants clustered at 157 and 181 distinct loci were associated with genome-wide significance for CH and CRF respectively. (arvojournals.org)
  • We also identified 79 unique genomic variants associated with depression and coronary artery disease or the risk factors. (plos.org)
  • Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. (bioseek.eu)
  • 8 9 Using genome-wide association, we have recently identified susceptibility variants for renal function and CKD at the UMOD , SHROOM3 , and STC1 loci in nearly 20,000 individuals. (bioseek.eu)
  • We integrated lipidomics and genomics to unravel the genetic architecture of lipid metabolism andidentify genetic variants associated with lipid species that are putatively in the mechanistic pathway to coronary artery disease. (centenary.org.au)
  • Disease associations have also been reported for CARD15/NOD2 and TNF variants. (ox.ac.uk)
  • The detection of variants associated with IBD risk in only people of African descent demonstrates the importance of studying the genetics of IBD and other complex diseases in populations beyond those of European ancestry. (njit.edu)
  • Correction to: Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. (medscape.com)
  • PTPA variants and the risk for Parkinson's disease in diverse ancestry populations. (medscape.com)
Pathways2
  • Heterogenous loci involved in formation of the same phenotype often contribute to similar biological pathways. (wikipedia.org)
  • Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease. (ox.ac.uk)
Coronary artery8
  • This study tries to find detectable signals of gene flow of Sub-Saharan origin into the Mediterranean in four genomic regions previously associated with coronary artery disease. (au.dk)
  • Epidemiological and clinical studies have found associations between depression and cardiovascular disease risk factors, and coronary artery disease patients with depression have worse prognosis. (plos.org)
  • We here investigated overlap at the genome-wide level and in individual loci between depression, coronary artery disease and cardiovascular risk factors. (plos.org)
  • We used the bivariate causal mixture model (MiXeR) to quantify genome-wide polygenic overlap and the conditional/conjunctional false discovery rate (pleioFDR) method to identify shared loci, based on genome-wide association study summary statistics on depression (n = 450,619), coronary artery disease (n = 502,713) and nine cardiovascular risk factors (n = 204,402-776,078). (plos.org)
  • ConjFDR identified 79 unique loci associated with depression and coronary artery disease or cardiovascular risk factors. (plos.org)
  • Loci associated with increased risk for depression were also associated with increased risk of coronary artery disease and higher total cholesterol, low-density lipoprotein and c-reactive protein levels, while there was a mixed pattern of effect direction for the other risk factors. (plos.org)
  • Our results showed polygenic overlap between depression, coronary artery disease and several cardiovascular risk factors and suggest molecular mechanisms underlying the association between depression and increased cardiovascular disease risk. (plos.org)
  • Idiopathic dilated cardiomyopathy (DCM) refers to congestive cardiac failure secondary to dilatation and systolic dysfunction (with or without diastolic dysfunction) of the ventricles (predominantly the left ventricle) in the absence of congenital, valvular, or coronary artery disease or any systemic disease known to cause myocardial dysfunction. (medscape.com)
GWAS1
  • Here, we identified loci associated to multi-environmental yield-related traits under stripe rust stress in 244 wheat accessions from Sichuan Province through genome-wide association study (GWAS) using 44,059 polymorphic markers from the 55 K single nucleotide polymorphism (SNP) chip. (biomedcentral.com)
Ocular diseases1
  • Results from previous studies indicate that these measures may be clinically informative for ocular diseases. (arvojournals.org)
Mutations2
  • Locus heterogeneity should not be confused with allelic heterogeneity, in which a single phenotype can be produced by multiple mutations, all of which are at the same locus on a chromosome. (wikipedia.org)
  • [ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
Parkinson's Disease12
  • Rapid eye movement (REM) sleep behavior disorder (RBD) is a prodromal condition for Parkinson's disease (PD) and other synucleinopathies, which often occurs many years before the onset of PD. (pasteur.fr)
  • Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium were invited to participate in the study. (uni-luebeck.de)
  • The Unified Parkinson's Disease Rating Scale Part III Motor Exam (UPDRS-III), MoCA, and OVS (supine vs. active standing) were collected in 62 early to moderate PD patients in the ON-medication state. (mdsabstracts.org)
  • This review summarizes the physiological and pathological roles of alpha-synuclein and its implication in Parkinson's disease pathogenesis. (medscape.com)
  • This paper examines a hallmark symptom of Parkinson's disease, bradykinesia, aiming to elucidate its underlying causes, and emphasizing abnormal behavioral computations mediating motor impairment. (medscape.com)
  • Might dopamine release deficits prior to neurodegeneration be a pathophysiological hallmark of Parkinson's disease? (medscape.com)
  • Investigating cortico-striatal beta oscillations in Parkinson's disease cognitive decline. (medscape.com)
  • How should we be using biomarkers in trials of disease modification in Parkinson's disease? (medscape.com)
  • npj Parkinson's Disease. (lu.se)
  • Journal of Parkinson's Disease. (lu.se)
  • The use of stem cell-derived dopamine neurons or deep brain stimulation (DBS) represents two alternative approaches to treat Parkinson's Disease. (lu.se)
  • Parkinson's disease (PD) is a complex heteroge- this? (lu.se)
Chromosome 101
  • Further analysis revealed that the chromosome 10 locus exhibits a dominant mode of inheritance, with BN alleles being associated with increased lesion number (P (mcw.edu)
Kidney function4
  • New loci associated with kidney function and chronic kidney disease. (bioseek.eu)
  • These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney. (bioseek.eu)
  • 1 2 This poses a significant global disease burden as the risk for end stage renal disease (ESRD), cardiovascular morbidity, and mortality increases with declining glomerular filtration rate (GFR), 3 the most commonly used measure of kidney function. (bioseek.eu)
  • Genetic loci influencing kidney function and chronic kidney disease. (ox.ac.uk)
Heterogeneity3
  • Locus heterogeneity and allelic heterogeneity are the two components of genetic heterogeneity. (wikipedia.org)
  • Locus heterogeneity may have major implications for a number of human diseases. (wikipedia.org)
  • The role and degree of locus heterogeneity is an important consideration in understanding disease phenotypes and in the development of therapeutic treatment for these diseases. (wikipedia.org)
17q11-q121
  • Other cataracts that map to chromosome 17 are zonular sutural cataract ( 600881 ) with a locus at 17q11-q12 and cerulean or 'blue dot' cataract ( 115660 ) at 17q24. (arizona.edu)
Resistance2
  • Plant growth habit is an important and complex agronomic trait and is associated with yield, disease resistance, and mechanized harvesting in peanuts. (frontiersin.org)
  • Plant architecture is associated with yield, disease resistance, and adaptation to mechanized harvesting. (frontiersin.org)
Chronic15
  • The aim was to analyze whether there are differences in the levels of stress perceived by the parents of children with chronic health problems, according to the type of locus of control (external or internal). (org.bo)
  • The analysis of the data found determines that parental stress is not significantly differentiated by the type of locus of control that it possesses, but differences are reported according to the diagnosis of the child with chronic disease and by the origin of the same. (org.bo)
  • Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. (ucdenver.edu)
  • Objectives Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. (bmj.com)
  • Chronic kidney disease (CKD) is estimated to affect over 13% of adults 1 and is increasing in prevalence. (bioseek.eu)
  • Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 x 10(-5) and P = 3.6 x 10(-4), respectively). (ox.ac.uk)
  • This work is leading to new approaches to early diagnosis and risk assessment, and to the development of new lipid modulating therapies for chronic disease. (centenary.org.au)
  • This study examined the effects of bronchodilator-induced reductions in lung hyperinflation on breathing pattern, ventilation and dyspnoea during exercise in chronic obstructive pulmonary disease (COPD). (ersjournals.com)
  • Mechanical factors play an important role in shaping the ventilatory response to exercise in chronic obstructive pulmonary disease. (ersjournals.com)
  • Several recent studies have shown that improvements in exertional dyspnoea following bronchodilator therapy in chronic obstructive pulmonary disease (COPD) correlate well with reductions in lung hyperinflation, as indicated by increases in inspiratory capacity (IC) 1 - 5 . (ersjournals.com)
  • Beryllium sensitization, chronic beryllium disease, and exposures at a beryllium mining and extraction facility. (cdc.gov)
  • The pathologic changes of chronic beryllium disease. (cdc.gov)
  • Misdiagnosis of sarcoidosis in patients with chronic beryllium disease. (cdc.gov)
  • 2003. Chronic beryllium disease: don't miss the diagnosis. (cdc.gov)
  • 2001. A comparison and critique of historical and current exposure assessment methods for beryllium: implications for evaluating risk of chronic beryllium disease. (cdc.gov)
Methylation5
  • The aim of this study was to examine whether 5 DNA methylation loci in blood DNA (ABCG1, PHOSPHO1, SOCS3, SREBF1, and TXNIP), recently reported to be associated with T2D, might predict future T2D in subjects from the Botnia prospective study. (lu.se)
  • DNA methylation at the ABCG1 locus cg06500161 in blood DNA was associated with an increased risk for. (lu.se)
  • Furthermore, the level of DNA methylation at the ABCG1 locus cg06500161 in blood DNA correlated positively with BMI, HbA1c, fasting insulin, and triglyceride levels, and was increased in adipose tissue and blood from the diabetic twin among monozygotic twin pairs discordant for T2D. (lu.se)
  • DNA methylation at the PHOSPHO1 locus cg02650017 in blood correlated positively with HDL levels, and was decreased in skeletal muscle from diabetic vs. non-diabetic monozygotic twins. (lu.se)
  • A new study co-led by researchers from the Epigenetics Group at the International Agency for Research on Cancer (IARC) provides a comprehensive catalogue of DNA methylation markers of gestational age at birth, a characteristic that is associated with the onset of diseases in later life. (who.int)
Relevance1
Genetic variance1
  • Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. (ntnu.no)
Associations3
  • Studies have found associations between depression and both cardiovascular disease risk factors and worse cardiovascular disease prognosis. (plos.org)
  • Associations between independent lipid-loci with coronary atherosclerosis were assessed in 456,000 individuals from the UK Biobank. (centenary.org.au)
  • Whether these genetic susceptibility loci modify previously identified exposure-disease associations is unclear. (who.int)
Methods1
  • Methods We performed 2 high-density, genome-wide scans comprising 2345 cases of African Americans with IBD (1646 with CD, 583 with UC, and 116 inflammatory bowel disease unclassified) and 5002 individuals without IBD (controls, identified from the Health Retirement Study and Kaiser Permanente database). (njit.edu)
Populations7
  • Background & Aims The inflammatory bowel diseases (IBD) ulcerative colitis (UC) and Crohn's disease (CD) cause significant morbidity and are increasing in prevalence among all populations, including African Americans. (njit.edu)
  • More than 200 susceptibility loci have been identified in populations of predominantly European ancestry, but few loci have been associated with IBD in other ethnicities. (njit.edu)
  • we also replicated IBD, CD, and UC loci identified in European populations. (njit.edu)
  • The current immunogenetics resources gather the germline alleles, however, lack the population specificity of the alleles which poses limitations for disease-association studies related to immune responses in different human populations. (molepi.nl)
  • The population matched IG (pmIG) resource will enhance our understanding of the SHM-related B-cell receptor selection processes in (infectious) diseases and vaccination within and between different human populations. (molepi.nl)
  • Expansion of Hi chemoprophylaxis recommendations might be warranted to control invasive Hi disease in certain populations in the United States, but further analysis is needed to evaluate the potential benefits against the risks, such as increased antibiotic use. (cdc.gov)
  • Neuromuscular disease genetics in underrepresented populations: increasing data diversity. (medscape.com)
OMIM1
Risk5
  • These loci did not improve AD risk prediction. (ox.ac.uk)
  • BACKGROUND AND AIMS: Genetic variation in the chromosome 5q31 cytokine cluster (IBD5 risk haplotype) has been associated with Crohn's disease (CD) in a Canadian population. (ox.ac.uk)
  • Identification of subjects with a high risk of developing type 2 diabetes (T2D) is fundamental for prevention of the disease. (lu.se)
  • BACKGROUND: Important risk factors for esophageal adenocarcinoma and its precursor, Barrett's esophagus, include gastroesophageal reflux disease, obesity, and cigarette smoking. (who.int)
  • Although alcohol, tobacco, and human papillomavirus (HPV) are major risk factors for HNC, only a small fraction of high-risk individuals developed HNC implying a crucial role of genetic susceptibility in the disease etiology. (who.int)
Identification1
  • Identification of two susceptibility loci for vascular fragility in the Brown Norway rat. (mcw.edu)
Mechanisms1
  • We now need to drill down at this locus to characterize these complex patterns of genetic variation more precisely and to understand the molecular mechanisms by which they act," Kwiatkowski added. (genomeweb.com)
Significantly2
  • Moreover, there was a near study-wide significant association between the HS3ST1 locus (rs6448799) and the "backward digits" working memory NE (β = 0.52, p = 7.57 × 10 -5 ) among individuals with Pr-aMCI, while the AP2A2 locus (rs10751667) was significantly associated with the language NE "repetition" (β = -0.19, p = 5.34 × 10 -6 ). (figshare.com)
  • Therefore, in this study, we are investigating the relationship between HNC and HLA loci using an advanced fine-mapping approach and a significantly larger dataset. (who.int)
Alzheimer Disease2
Functional2
  • Genetic loci were functionally annotated using FUnctional Mapping and Annotation (FUMA). (plos.org)
  • Functional analyses of the shared loci implicated metabolism of alpha-linolenic acid pathway for type 2 diabetes. (plos.org)
Epistasis1
  • This locus was in epistasis to a modifier locus on rat chromosome 2 at D2Mit14 (LOD score 2.12). (mcw.edu)
Complex1
  • Complex interactions between susceptibility loci have been shown in animal models, and we tested for potential gene-gene interactions between the three CD associated loci. (ox.ac.uk)
Marker1
  • The genomic region flanked by plant colour locus (Plcor) and simple sequence repeat marker Xtxp95 on chromosome SBI-06 harboured disease-response QTL for all the three diseases caused by different fungal pathogens. (aber.ac.uk)
Disorder2
  • No statement herein is to be construed as a diagnosis, treatment, preventative, or cure for any disease, disorder or abnormal physical state. (belmarrahealth.com)
  • In the first instance, this defining feature of the neous disorder for which the aetiology, in the majority disease has been shown at post-mortem, as well as of cases, is unknown [1]. (lu.se)
Proteins1
  • At least two P. falciparum proteins bind host blood cells via interactions with the glycophorin proteins Glycophorin A and Glycophorin B, the team noted, consistent with a potential role for the glycophorin locus in helping to dodge severe malaria infection. (genomeweb.com)
Aetiology1
  • The overlapping and correlated genetic factors between corneal biomechanics and ocular disease indicate that these results may provide additional insight into the genetic aetiology of POAG and FECD. (arvojournals.org)
Analysis3
  • Fig. 2: Genomic locus proteomic analysis of MYC promoter. (nature.com)
  • Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. (ox.ac.uk)
  • Salmonella Typhimurium multiple-locus-variable number tandem repeats analysis (MLVA) type 3-10-8-9-523 was identified in 95.9% (47/49) of stool samples. (who.int)
Renal disease1
  • Anxiety, locus of control, and coping strategies among end-stage renal disease patients undergoing maintenance hemodialysis. (bvsalud.org)
Haplotype1
  • The search led to a haplotype falling in a chromosome 4 locus that's undergone balancing selection early in the human lineage. (genomeweb.com)
Protein1
  • Together with protein-protein interaction profiles, that data helped the group tally up a set of around 200 loci that are most strongly linked to such convergent evolution. (genomeweb.com)