• 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)
  • 1 An oligogenic contribution is suspected, 2 but to date only the HLA-DRB1 locus, contributing up to 40% of the genetic component of the disease, has been identified with certainty. (bmj.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)
  • 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)
  • 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)
  • Consistent with many other autoimmune illnesses, Graves' disease exhibits a pronounced gender bias, with a female to male ratio of about 5:1 in the Chinese population, similar to that in Caucasian populations. (bmj.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)
  • 4 Studies of FcγRIIIA deficient mice have shown an important role for this receptor in inflammatory responses and immune complex mediated disease. (bmj.com)
  • allelic
  • 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)
  • We conclude that our data support neither allelic nor genotype association between the MHC2TA SNP and SLE. (diva-portal.org)
  • 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)
  • Humans
  • The results provide evidence for the presence of enterovirus in pancreatic islets of type 1 diabetic patients, which is consistent with the possibility that a low-grade enteroviral infection in the pancreatic islets contributes to disease progression in humans. (uio.no)
  • Phenotype
  • 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)
  • 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)
  • diseases
  • 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)
  • 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)
  • 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)
  • pancreatic
  • Type 1 diabetes (T1D) is a chronic disease that results from an immune-mediated destruction of the insulin-producing β-cells in the pancreatic islets of Langerhans. (diabetesjournals.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)
  • severity
  • A novel and functional M299V mutation in NLRP3 was detected in the siblings who neither had common symptoms nor the same disease severity. (diva-portal.org)
  • They could be important mediators of disease severity and could trigger acute events. (intechopen.com)
  • It has been shown that MMPs are important mediators of disease severity or could trigger acute events. (intechopen.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • Human genetics of diabetic retinopathy: current perspectives. (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)