• haplotypes
  • HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. (wikipedia.org)
  • Multigene haplotypes following standard dynamics only exist in robust populations for a short time, the average distance between genes of about 200,000 nts, which means that over 250 generations (~5000 years) one expects 1/2 of adjacent genes to have new gene-alleles, unless the genes are small and very close together. (wikipedia.org)
  • In the US Caucasians, 57% of haplotypes with a core component, Cw7-B8, extend from HLA-A1 locus to DQ2 locus. (wikipedia.org)
  • In addition, there are several HLA-A*02 haplotypes that appear to contribute heavily to higher or lower viral loads in HIV patients. (wikipedia.org)
  • We demonstrated that many of the alleles that have been associated with liver injury induced by structurally diverse drugs (flucloxacillin, co-amoxiclav, ximelagatran, lapatinib, lumiracoxib) reside on common HLA haplotypes, which were present in populations of diverse ethnicity. (biomedcentral.com)
  • 95% of type 1 diabetes have HLA-DR3 or DR4, or both, and in family studies, sibling pairs affected with type 1 diabetes have a non-random distribution of shared HLA haplotypes. (mysteria.cz)
  • At least two specific combinations of HLA gene variants (HLA haplotypes) have been found to increase the risk of developing celiac disease, a disorder in which inflammation damages the intestinal tract and other organs and tissues. (nih.gov)
  • Other HLA haplotypes only mildly increase the risk of type 1 diabetes, while some haplotypes seem to protect against developing this condition. (nih.gov)
  • 0301
  • DPB1*0301 was associated in all three groups, even after accounting for LD with DRB1-DQB1. (diabetesjournals.org)
  • These results suggest that the observed DPB1 associations, especially that of the DPB1*0301 allele, with type 1 diabetes are likely to be true associations. (diabetesjournals.org)
  • A3 is primarily composed of A*0301 and *0302 which serotype well with anti-A3 antibodies. (wikipedia.org)
  • It is also associated with Membranous glomerularnephritis DRB1*0301 (see HLA-DR17) DRB1*0302 (See HLA-DR18) DRB1*0304 is associated with graves disease DR3 and/or DQ2 is associated with Moreen's ulceration, "bout onset" multiple sclerosis, Grave's disease and systemic lupus erythematosus DR3-DQ2 linkage is associated with coeliac disease, dermatitis herpetiformis, Diabetes mellitus type 1. (wikipedia.org)
  • 0201
  • Compared to DQ2 serotyping of DQB1*0201 positive individuals (98%), the efficiency of DQ1 recognition is relatively low and error prone. (wikipedia.org)
  • antigen
  • HLA-DQ8 (DQ8) is a human leukocyte antigen serotype within the HLA-DQ (DQ) serotype group. (wikipedia.org)
  • The HLA-A*02 antigen has been associated with spontaneous abortion in infertile couples. (wikipedia.org)
  • To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. (usc.edu)
  • Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). (usc.edu)
  • 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). (usc.edu)
  • molecules
  • zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules. (bmj.com)
  • These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity. (diabetesjournals.org)
  • In the case of DRB1-DQB1 , a correlation of polymorphic amino acids in the peptide-binding active site of the molecules with susceptibility and resistance to disease was observed ( 19 , 20 ). (diabetesjournals.org)
  • Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. (usc.edu)
  • HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. (usc.edu)
  • In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. (usc.edu)
  • frequency
  • The hypothesis underlying the DAISY data in this study is that DPB1 allele frequency differences may at least partially account for the higher rate of autoimmunity and type 1 diabetes observed in high-risk, first-degree relatives compared with high-risk individuals without a first-degree relative (see below). (diabetesjournals.org)
  • The DRB1*04 and DQB1*0302 alleles were increased in frequency among the IA-2 autoantibody-positive diabetic ( P = 0.020 and P = 0.015, respectively) and control ( P = not significant) subjects compared with those in subjects lacking these markers. (diabetesjournals.org)
  • The DR4 serogroup is large and has a number of moderate frequency alleles spread over large regions of the world. (wikipedia.org)
  • In addition, we utilized HLA genotype data from more than four million individuals from publicly accessible repositories such as the Allele Frequency Net Database, Major Histocompatibility Complex Database and Immune Epitope Database to study the HLA alleles associated with DILI. (biomedcentral.com)
  • coeliac
  • For disease diagnosis and confirmation, there is no known association of DQB1*0305 with either coeliac or autoimmune diabetes. (wikipedia.org)
  • Conclusion: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region. (bmj.com)
  • variants
  • HLA-A*02 is globally common, but particular variants of the allele can be separated by geographic prominence. (wikipedia.org)
  • An individual's HLA variants influence peptide binding and signal transduction after T cell receptor (TCR) engagement. (jci.org)
  • genotype
  • The INS predisposing genotype was less frequent (74.9%) in high-risk HLA genotype-positive patients than in those with HLA intermediate-risk (86.1%) and low-risk (84.8%) categories. (diabetesjournals.org)
  • peptide
  • We modeled the influence of carrying a TCF7L2 variant (i.e., having 1 or 2 minor alleles) on the number of islet autoantibodies and oral glucose tolerance test (OGTT)-stimulated C-peptide and glucose measures at diabetes diagnosis. (diabetesjournals.org)
  • 5. The isolated complex of claim 1, wherein said diabetes-associated autoantigenic peptide is covalently embedded between amino acids 1-6 of an extracellular domain of a beta chain of said MHC class II. (patentsencyclopedia.com)
  • heterodimer
  • This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. (usc.edu)
  • major histoco
  • Alleles of the GCT microsatellite in the major histocompatibility complex class I chain-related gene-A (MIC-A) gene were typed using the method described by Gambelunghe et al. (diabetesjournals.org)
  • Genome-wide association studies have underscored the genetic association of the major histocompatibility complex (MHC) region with autoimmune diseases, in which case various predisposing alleles have been found ( 2 , 3 ). (frontiersin.org)
  • The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. (nih.gov)
  • 0305
  • Although false reaction with DQB1*0302 is low, the efficiency of the positive reaction is not good and there is a risk of false detection of DQB1*0305 which could create incompatibility. (wikipedia.org)
  • DQB1*0305 gene product reacts slightly more intensely with DQ8 than DQ7 its generally rare in Europe and North America, except in a few indigeonous populations. (wikipedia.org)
  • Levels of DQB1*0305 are probably higher given earlier tests did not discriminate well between different *03. (wikipedia.org)
  • class
  • The shorter class of alleles, named class I, is positively associated with type 1 diabetes, whereas the longer class of alleles, named class III, is negatively associated. (diabetesjournals.org)
  • 8. The isolated complex of claim 7, wherein said beta chain of said MHC class II comprises a first member of a binding pair which upon expression in eukaryotic cells binds to a second member of said binding pair, wherein said second member is comprised in an alpha chain of said MHC class II, wherein said beta chain and said alpha chain form said MHC class II. (patentsencyclopedia.com)
  • HLA-DPB belongs to the HLA class II beta chain paralogues. (usc.edu)
  • myasthenia gravis
  • HLA-DR3 is associated with early-age onset myasthenia gravis, Hashimoto's thyroiditis (along with DR5), primary sclerosing cholangitis, and opportunistic infections in AIDS, but lowered risk for cancers. (wikipedia.org)
  • respectively
  • In a U.S. cohort, heterozygous and homozygous carriers of the at-risk alleles comprised 40.6% and 7.9%, respectively, of the control subjects and 44.3% and 18.3%, respectively, of the individuals with type 2 diabetes ( 3 ). (diabetesjournals.org)
  • disease
  • DRB1*01:01/*04:04 and *01:01/*04:01 increases risk of mortality in rheumatoid arthritis, with ischemic heart disease and smoking. (wikipedia.org)
  • cytoplasmic tail
  • HIV produces a protein called Nef that binds to the cytoplasmic tail of HLA-A and B and diverts it to the lysosomes for destruction. (wikipedia.org)
  • peptides
  • This is a significant decrease and is almost certainly a result of the abnormally efficient binding of HLA-A*02 to peptides originating from EBV. (wikipedia.org)
  • This high affinity increases the probability of CD8+ t-cell recognition of EBV peptides held by HLA-A*02 complexes. (wikipedia.org)
  • interaction
  • Both of these mechanisms highlight that the unique interaction between drug, T-cell receptor and MHC molecule is a key factor in the development of immune-mediated adverse reactions to drugs and, as such, the study of HLA alleles represents a logical route to study the genetic basis of such immune-mediated reactions. (biomedcentral.com)
  • diabetes
  • DR4≠DRB1*0403) individuals with and without an affected first-degree relative, collected as part of the Diabetes AutoImmunity Study of the Young (DAISY). (diabetesjournals.org)
  • As predisposing genetic factors such as HLA alleles are known, immunological interventions to prevent type 1 diabetes are of great interest. (mysteria.cz)
  • A large body of studies supports the direct involvement of HLA-DRB1 , DQB1 , and INS -VNTR variation in type 1 diabetes. (diabetesjournals.org)
  • risk
  • DRB1*04 is associated with increased risk for alopecia areata. (wikipedia.org)
  • In the hepatocyte, TCF7L2 risk alleles are associated with gain of function and increased hepatic glucose release during fasting ( 17 ). (diabetesjournals.org)
  • HLA-A*02 has been linked with decreased risk of developing Epstein-Barr virus (EBV)-positive Hodgkin lymphoma(HL). (wikipedia.org)
  • high affinity
  • 14. An isolated high affinity entity comprising complementarity determining regions (CDRs) set forth by SEQ ID NOs:171-173 and 177-179 (CDRs 1-3 of light and heavy chains of G3H8), or SEQ ID NOs:183-185 and 189-191 (CDRs 1-3 of light and heavy chains G1H12). (patentsencyclopedia.com)