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  • allele
  • We used a case-control approach to investigate the prevalence of a relevant variant in Swedish systemic lupus erythematosus (SLE) cohorts to determine whether SLE shares the same MHC2TA susceptibility allele as the other diseases. (diva-portal.org)
  • No differences were observed between cases and control subjects at either the allele or genotype levels. (diva-portal.org)
  • DQ4 is associated with: juvenile diabetic retinopathy The DR8-DQ4 haplotype is associated with papillary thyroid carcinomas juvenile idiopathic arthritis via DR8 allele, chronic chlamydia infection, possibly pemphigus DR4-DQ4(DRB1*0405:DQB1*0401) is associated with: autoimmune pancreatitis, juvenile type 1 diabetes, rheumatoid arthritis in Japanese. (wikipedia.org)
  • If one type of the variant (one allele) is more frequent in people with the disease, the variant is said to be associated with the disease. (wikipedia.org)
  • This study type asks if the allele of a genetic variant is found more often than expected in individuals with the phenotype of interest (e.g. with the disease being studied). (wikipedia.org)
  • The odds ratio is the ratio of two odds, which in the context of GWA studies are the odds of disease for individuals having a specific allele and the odds of disease for individuals who do not have that same allele. (wikipedia.org)
  • locus
  • A susceptibility locus with significant linkage to vasculitis of main branches of the aorta was mapped on chromosome 4 at D4Mit213 (map position 13.3cM) selectively in males, while vasculitis of medium-sized arteries in the lower limbs was mapped to different chromosomes: at D8Mit31 on chromosome 8 (map position 33.0) selectively in females and at D5Mit36 on chromosome 5 (map position 65.0). (wiley.com)
  • Conclusions The finding of an X-linked risk locus for Graves' disease expands our understanding of the role of the X chromosome in disease susceptibility. (bmj.com)
  • Two GWAS have identified the FCRL3 /1q23 locus as a susceptibility locus for IA-2A ( 6 ) and ZnT8 ( 7 ) positivity in a European population. (diabetesjournals.org)
  • genetic
  • IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. (snpedia.com)
  • Understanding the genetic basis of disease risk in depth requires an exhaustive knowledge of the types of genetic variation. (biomedcentral.com)
  • According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. (barnesandnoble.com)
  • In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. (barnesandnoble.com)
  • For any complex disease, many questions about its genetic architecture can be raised. (barnesandnoble.com)
  • How many genetic variants are involved in individual differences in the propensity to develop the disease (e.g., just a handful, tens, hundreds, or thousands)? (barnesandnoble.com)
  • Autoantibodies against insulin protein (IAA), IA-2 (IA-2A), GAD (GADA), and zinc transporter 8 (ZnT8A) have also been demonstrated to predict the onset of T1D in individuals at high genetic risk of the disease ( 2 , 3 ). (diabetesjournals.org)
  • These interactions are of particular interest to genetic epidemiologists for predicting disease rates and methods of prevention with respect to public health. (wikipedia.org)
  • In genetics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. (wikipedia.org)
  • alleles
  • A new classification of HLA-DRB1 alleles, reshaping the shared epitope (SE) hypothesis, was recently found relevant in terms of RA susceptibility and structural severity. (paperity.org)
  • We investigated the relevance of this new classification of HLA-DRB1 SE+ alleles in terms of rheumatoid factor (RF) and ACPA production in a sample of French RA patients. (paperity.org)
  • We investigated the relevance of this new classification of HLADRB1 SE+ alleles in terms of rheumatoid factor (RF) and ACPA production in a sample of French RA patients. (paperity.org)
  • genome-wide as
  • Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. (barnesandnoble.com)
  • systemic
  • Systemic vasculitis is a chronic disease associated with syndromes such as Takayasu arteritis, polyarteritis nodosa, Wegener's granulomatosis, and microscopic polyangiitis ( 1 ). (wiley.com)
  • It is also often a complication of other collagen diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Sjögren's syndrome ( 2 ). (wiley.com)
  • MRL/Mp- lpr/lpr (MRL/lpr) mice are a useful model of systemic vasculitis because they spontaneously develop systemic vasculitis with glomerulonephritis, sialoadenitis, and arthritis ( 3 , 4 ). (wiley.com)
  • Receptor
  • Receptor type IIIA (Fc?RIIIA), which binds IgG with higher affinity than 158FF, was associated with an increased susceptibility to RA in men, but not in women. (openthesis.org)
  • Acquired antibody responses against Plasmodium vivax infection vary with host genotype for duffy antigen receptor for chemokines (DARC)," PLoS ONE , vol. 5, no. 7, Article ID e11437, 2010. (hindawi.com)
  • SNPs
  • The associated SNPs are then considered to mark a region of the human genome that may influence the risk of disease. (wikipedia.org)
  • Also the development of the methods to genotype all these SNPs using genotyping arrays was an important prerequisite. (wikipedia.org)
  • GWAS
  • Methods We re-examined the X chromosome data from our recent GWAS for Graves' disease by including males that were previously excluded from the X chromosome analyses. (bmj.com)
  • cohort
  • We studied 160 early RA patients included in a prospective longitudinal cohort of French Caucasian patients with recent-onset arthritis. (paperity.org)
  • news announcement rs2104286 was significantly associated with UK cases of juvenile idiopathic arthritis (JIA)(allelic odds ratio = 0.76, CI: 0.66-0.88, trend p=0.0002), and the association was strongest in a cohort of patients with oligoarthritis, the most common subtype of JIA. (snpedia.com)
  • genotypes
  • Gene-environment interaction (or genotype-environment interaction or G×E) is when two different genotypes respond to environmental variation in different ways. (wikipedia.org)
  • 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)
  • clinical
  • Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. (barnesandnoble.com)
  • This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as opposed to genotype-first. (wikipedia.org)
  • diseases
  • Introduction Since early rheumatoid arthritis (RA) is often indistinguishable from other inflammatory joint diseases, recent-onset inflammatory synovitis poses a diagnostic and prognostic challenge to rheumatologists . (paperity.org)
  • Oxidative stress and oxidative damage to the tissue are common end points of chronic diseases, such as atherosclerosis, diabetes, and rheumatoid arthritis [ 3 ]. (hindawi.com)
  • It could be a part of many pathological states such as arthritis, cardiovascular diseases, neurodegenerative diseases or part of the impaired development in congenital anomalies [ 1 - 4 ]. (intechopen.com)
  • Human prion diseases include Creutzfeldt-Jakob disease (CJD) and its variant (vCJD), Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, and kuru. (wikipedia.org)
  • Alper and Griffith wanted to account for the discovery that the mysterious infectious agent causing the diseases scrapie and Creutzfeldt-Jakob disease resisted ionizing radiation. (wikipedia.org)
  • phenotypes
  • When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. (wikipedia.org)
  • These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. (wikipedia.org)
  • Graves
  • Background Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. (bmj.com)
  • traits
  • Any of these may cause alterations in an individual's traits, or phenotype, which can be anything from disease risk to physical properties such as height. (wikipedia.org)
  • Abstract
  • Prions are infectious agents composed entirely of a protein material that can fold in multiple, structurally abstract ways, at least one of which is transmissible to other prion proteins, leading to disease in a manner that is epidemiologically comparable to the spread of viral infection. (wikipedia.org)
  • factor
  • These advances have increased the demands for rapid accurate diagnosis and prognostic markers of disease course and therapy response.The 'rheumatoid factor' (RF) has long been used as a diagnostic and prognostic marker of RA. (openthesis.org)
  • Methods
  • The main themes of Chris's research are the use of mathematical modelling and statistical methods to gain insights into biological processes and their relation to disease. (wellcome.ac.uk)
  • Therefore, for exhaustive identification of CNPs associated with disease, probe density must be increased and the sensitivity of the analytical methods improved. (biomedcentral.com)
  • Trait
  • if two strangers are relatively similar genetically and also have similar trait measurements, then this indicates that the measured genetics causally influence that trait, and how much. (wikipedia.org)
  • association
  • Genotype data for SNP rs2104286 for controls was combined with the data for that SNP obtained from a genome-wide association study (WTCCC GWA), giving a total control sample size of 6787. (snpedia.com)
  • tissue
  • Since they are involved in a wide spectrum of physiological and pathological processes, there is a need for determination of their precise role in different tissue and cell-specific context as well as in different stages of disease development or progression. (intechopen.com)
  • neurodegenerative
  • A 2015 study concluded that multiple system atrophy (MSA), a rare human neurodegenerative disease, is caused by a misfolded version of a protein called alpha-synuclein, and is therefore also classifiable as a prion disease. (wikipedia.org)
  • human
  • We anticipate that our data, results and software, which will be widely available to other investigators, will provide a powerful resource for human genetics research. (nature.com)
  • In the United States, it is currently approved by the Food and Drug Administration (FDA) for use in kidney transplantation from human donors, and for rheumatoid arthritis. (wikipedia.org)
  • risk
  • Resequencing study suggested the contribution of some rare variants in the GPR174 gene region to disease risk with a collapsing p value of 1.16×10 −3 . (bmj.com)
  • Sometimes, sensitivity to environmental risk factors for a disease are inherited rather than the disease itself being inherited. (wikipedia.org)
  • markers
  • 2006/2007, which used SNP markers to estimate the actual relatedness of siblings and estimate heritability from the direct genetics. (wikipedia.org)