• genotype
  • When children with the DR3/DR4 genotype were separately analyzed, HLA-B*39 had a strong effect (OR 6.6, P = 0.004 and OR 7.5, P = 0.007, after the appearance of the first and the second autoantibody, respectively). (diabetesjournals.org)
  • Patients with type 2 diabetes and healthy subjects carrying the T allele or the TT genotype at the rs7903146 locus exhibit impaired insulin secretion and defects in glucagon suppression, particularly in response to incretins and oral glucose, as well as abnormal insulin processing ( 17 - 19 ). (diabetesjournals.org)
  • However, genotype at thers2069762 locus did not directly associate with disease state. (ufl.edu)
  • autoantibody
  • Multivariate analysis demonstrated a significant protective effect of the A*03 allele (odds ratio [OR] 0.61, P = 0.042 after the first and OR 0.55, P = 0.027 after the second autoantibody), whereas the B*39 allele had a promoting effect after seroconversion for the second autoantibody (OR 2.4, P = 0.014). (diabetesjournals.org)
  • Two distinctly HLA-associated contiguous linear epitopes uniquely expressed within the islet antigen 2 molecule are major autoantibody epitopes of the diabetes-specific tyrosine phosphatase-like protein autoantigens. (ld.ru)
  • While human leukocyte antigen typing, autoantibody measurement, and thecharacterization of many regions affording genetic susceptibility have contributedtremendously to our ability to predict the onset of, comprehend the etiologyof, and track the progression of type 1 diabetes, these approaches are far fromcomplete in terms of their understanding. (ufl.edu)
  • Individuals with high risk human leukocyte antigen, autoantibody, andgenotypic profiles still escape overt disease, while in contrast individualswith low risk factors can progress to type 1 diabetes. (ufl.edu)
  • chromosome
  • The major histocompatibility complex (MHC), located on the short arm of Chromosome 6, is one of the most extensively studied regions in the human genome because of the contribution of multiple variants at this locus in autoimmune, infectious, and inflammatory diseases and in transplantation. (plos.org)
  • frequency
  • The DR4 serogroup is large and has a number of moderate frequency alleles spread over large regions of the world. (wikipedia.org)
  • The MHC was first associated with disease in 1967 when HLA-B antigens were found at increased frequency in patients with Hodgkin's lymphoma . (plos.org)
  • islet
  • Type 1 diabetes is characterized by the presence of antibodies to a 65 kD Glutamic Acid Decarboxylase antigen (GAD), Insulinoma-associated protein-2 antibodies (IA-2 orICA512), which is now known as protein- tyrosine phosphatase (PTP), insulin autoantibodies (IAAs), and islet cell autoantibodies (ICAs), in blood that identify the autoimmune process that leads to β cell destruction. (mysteria.cz)
  • 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)
  • diabetes
  • Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes. (wikipedia.org)
  • The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. (wikipedia.org)
  • OBJECTIVE Class II alleles define the main HLA effect on type 1 diabetes, but there is an independent effect of certain class I alleles. (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)
  • The transcription factor 7 like 2 ( TCF7L2 ) locus contains the single nucleotide polymorphism (SNP) most strongly associated with type 2 diabetes risk, with an ∼30% increase per risk allele ( 3 ). (diabetesjournals.org)
  • 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)
  • The locus has no known association with type 1 diabetes overall ( 4 - 8 ), with conflicting reports in latent autoimmune diabetes in adults ( 8 - 16 ). (diabetesjournals.org)
  • HLA polymorphism in type 1 diabetes Tunisians. (ld.ru)
  • GAD65 antibody prevalence and association with thyroid antibodies, HLA-DR in Chinese children with type 1 diabetes mellitus. (ld.ru)
  • variants
  • The major histocompatibility complex (MHC) is one of the most extensively studied regions in the human genome because of the association of variants at this locus with autoimmune, infectious, and inflammatory diseases. (plos.org)
  • An individual's HLA variants influence peptide binding and signal transduction after T cell receptor (TCR) engagement. (jci.org)
  • immune cells
  • Genetically predisposed individuals could be influenced by an environmental trigger (i.e., dietary iodine, infection, pregnancy, cytokine therapy) that induces an autoimmune response against thyroid-specific antigens by infiltrating immune cells. (springer.com)
  • partially
  • The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes). (wikipedia.org)
  • DQ8 is determined by the antibody recognition of β8 and is complicated by the fact that DQ8 recognizes some HLA-DQB1*03 encoded isoforms well, partially or not well at all (See serology) DQ β3.2 and β3.5 are best recognized as DQ8. (wikipedia.org)
  • high risk
  • 1 ) Puerto Rican case and control subjects, 2 ) Mexican-American simplex families, and 3 ) high-risk (DR3/DR4) individuals with and without an affected relative. (diabetesjournals.org)
  • Human
  • As a result, they strongly bind to human leucocyte antigens (HLAs), especially HLA-DQ2 and HLA-DQ8, expressed on antigen-presenting cells. (readbyqxmd.com)
  • Shortly afterward, Jean Dausset recognized the human MHC, or human leukocyte antigen (HLA) region, so named because Dausset originally demonstrated MHC antigens on the surface of white blood cells . (plos.org)
  • risk
  • In the hepatocyte, TCF7L2 risk alleles are associated with gain of function and increased hepatic glucose release during fasting ( 17 ). (diabetesjournals.org)
  • DQ8 increases the risk for rheumatoid arthritis and is linked to the primary risk locus for RA, HLA-DR4. (wikipedia.org)
  • 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)