• Celiac1 is a genetic name for DQB1, the HLA DQB1*0201, *0202, and *0302 encode genes that mediate the autoimmune coeliac disease. (wikipedia.org)
  • Several environmental, genetic, and immune factors create a "perfect storm" for the development of coeliac disease: the antigen gluten, the strong association of coeliac disease with HLA, the deamidation of gluten peptides by the enzyme transglutaminase 2 (TG2) generating peptides that bind strongly to the predisposing HLA-DQ2 or HLA-DQ8 molecules, and the ensuing unrestrained T cell response. (frontiersin.org)
  • In this review, we will discuss how tissue destruction in the context of coeliac disease results from the complex interactions between gluten, HLA molecules, TG2, and multiple innate and adaptive immune components. (frontiersin.org)
  • Coeliac disease (CeD) is a multifactorial intestinal immune-mediated disorder with autoimmune features that leads to inflammatory and destructive lesions in the proximal small intestine. (frontiersin.org)
  • Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes. (wikipedia.org)
  • Certain HLA-DQB1 alleles are also linked to a modest increased risk of multiple sclerosis. (wikipedia.org)
  • Other HLA-DQB1 alleles are associated with a predisposition to narcolepsy, specifically HLA-DQB1*0602, which is carried by over 90% of patients with narcolepsy-cataplexy. (wikipedia.org)
  • Researchers have identified hundreds of different versions (alleles) of the HLA-DQB1 gene, each of which is given a particular number (such as HLA-DQB1*06:02 ). (medlineplus.gov)
  • In addition to influencing immune response patterns, many of these alleles are associated with susceptibility to a wide spectrum of autoimmune diseases, making the MHC an essential starting point for anyone wanting to understand the genetics of rheumatic diseases. (musculoskeletalkey.com)
  • In the case of systemic lupus erythematosus (SLE) and related illnesses, many of the HLA class II alleles are associated with the presence of specific autoantibodies or clinical phenotypes. (musculoskeletalkey.com)
  • A four-loci genotype study showed that A*01-B*07-DRB1*0701- DQB1*0602 (P = 0.001, OR 41.9) and the A*31-B*51-DRB1*0103- DQB1*0302 (P = 0.012, OR 4.8) are positively associated with autism among Saudi patients. (wikipedia.org)
  • 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. (medlineplus.gov)
  • One of these haplotypes, known as DQ2, is composed of the protein produced from HLA-DQB1 gene variants known as HLA-DQB1*02:01 or HLA-DQB1*02:02 bound to the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*05:01 or HLA-DQA1*05:05 . (medlineplus.gov)
  • HLA- DQ2 and HLA-DQ8 testing is valuable because CD is unlikely if both haplotypes are negative. (vdocuments.net)
  • Class II molecules are expressed in antigen-presenting cells (APC: B lymphocytes, dendritic cells, macrophages). (wikipedia.org)
  • However, while up to 40% of the general population in Western countries express one of the predisposing HLA molecules, the global prevalence of CeD is just 1% ( 8 ). (frontiersin.org)
  • The HLA molecules and their counterparts in rodents were subsequently shown to be directly responsible for immune response differences between individuals and for determining the likelihood of graft rejection. (musculoskeletalkey.com)
  • In each individual, T cells are generally restricted to recognize antigens presented by the person's own HLA molecules. (musculoskeletalkey.com)
  • The allelic variations among different HLA molecules are a major factor accounting for differences in the types of antigenic peptides to which an individual responds or in the types of T cells that are used in an immune response. (musculoskeletalkey.com)
  • HLA class I molecules consist of a 45-kD α chain encoded within the MHC that is noncovalently associated with the 12-kD β 2 -microglobulin chain (encoded on chromosome 15). (musculoskeletalkey.com)
  • HLA class II molecules consist of noncovalently associated α (32 kD) and β (28 kD) chains, both of which are encoded within the MHC. (musculoskeletalkey.com)
  • HLA class I and class II molecules are cell surface glycoproteins, anchored to the membrane by hydrophobic transmembrane segments. (musculoskeletalkey.com)
  • In fact, the HLA locus which is the main inherited genetic susceptibility factor for CeD, only accounts for ~ 40% of the genetic variance of the disease. (frontiersin.org)
  • Hence, non-MHC susceptibility loci explaining ~ 15% of the disease risk ( 10 - 13 ), as well as additional environmental factors other than gluten, are thought to contribute to disease development. (frontiersin.org)
  • A version of the HLA-DQB1 gene called HLA-DQB1*06:02 increases the risk of developing the sleep disorder narcolepsy, particularly in people who also have cataplexy. (medlineplus.gov)
  • Most people who have narcolepsy with cataplexy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes (including HLA-DQA1 ). (medlineplus.gov)
  • However, these variations are very common in the general population, and only a small percentage of people with particular variations in HLA genes develop narcolepsy. (medlineplus.gov)
  • The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (medlineplus.gov)
  • The HLA-DQB1 gene belongs to a group of MHC genes called MHC class II. (medlineplus.gov)
  • Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene and also denotes the genetic locus that contains this gene. (wikipedia.org)
  • HLA-DQB1 belongs to the HLA class II beta chain paralogues. (wikipedia.org)
  • Homozygotes of DQB1*0201 have a higher risk of developing the celiac disease, relative to any other genetic locus. (wikipedia.org)
  • The HLA-DQB1 gene provides instructions for making a protein that plays a critical role in the immune system. (medlineplus.gov)
  • The protein produced from the HLA-DQB1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DQA1 . (medlineplus.gov)
  • The other haplotype, known as DQ8, is composed of the protein produced from the HLA-DQB1 gene variant known as HLA-DQB1*03:02 bound to the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*03:01 or HLA-DQA1*03:02 . (medlineplus.gov)
  • It is unclear how HLA-DQB1*06:02 causes this elevated risk. (medlineplus.gov)
  • 90-95% of CeD patients carry the HLA-DQ2.5 variant (DQA1*05:01, DQB1*02:01) that confers the highest risk of developing CeD while the remaining patients carry HLA-DQ2.2 (DQA1*02:01, DQB1*02:02) or HLA-DQ8 (DQA1*03, DQB1*03:02) ( 5 , 7 ). (frontiersin.org)
  • The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. (wikipedia.org)
  • This finding suggests that these HLA variants contribute to, but are not sufficient for, the development of the disease and that additional genetic and environmental factors are needed to mount a pathogenic immune response against gluten ( 9 ). (frontiersin.org)
  • During this time, the perception of CD has changed from a rather uncommon enteropathy to a common multi- organ disease with a strong genetic predisposition that is associated mainly with human leukocyte antigen (HLA)-DQ2 and HLA-DQ8. (vdocuments.net)
  • CeD is triggered by gluten consumption in genetically susceptible individuals carrying certain major histocompatibility complex (MHC) class II human leukocyte antigen (HLA) variants ( 5 , 6 ). (frontiersin.org)
  • The polymorphisms associated with the "shared epitope" are located on the α-helical rim (DRB1 chain) of the peptide-binding cleft, where they may interact with either the bound peptide antigen or the T cell receptor. (musculoskeletalkey.com)
  • Overview of all the structural information available in the PDB for UniProt: P01920 (HLA class II histocompatibility antigen, DQ beta 1 chain) at the PDBe-KB. (wikipedia.org)
  • Together, they form a functional protein complex called an antigen-binding DQαβ heterodimer. (medlineplus.gov)
  • Interestingly, the recent data in RA indicate that the major HLA-DR associations are with anti-CCP antibody positive disease, suggesting that control of autoantibody responses may be a primary mechanism underlying these associations in RA as well. (musculoskeletalkey.com)
  • The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes). (wikipedia.org)
  • T cell immunity is at the center of the disease contributing to the inflammatory process through the loss of tolerance to gluten and the differentiation of HLA-DQ2 or HLA-DQ8-restricted anti-gluten inflammatory CD4 + T cells secreting pro-inflammatory cytokines and to the killing of intestinal epithelial cells by cytotoxic intraepithelial CD8 + lymphocytes. (frontiersin.org)
  • The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. (medlineplus.gov)
  • CeD, similar to other organ-specific autoimmune disorders, is marked by its complexity both at the epidemiological and immunological levels, which translates into a spectrum of clinical manifestations ( 1 ). (frontiersin.org)
  • Previous studies of sporadic inclusion body myositis (sIBM) have shown a strong association with HLA-DR3 and other components of the 8.1 ancestral haplotype (AH) (HLA-A1, B8, DR3), where the susceptibility locus has been mapped to the central major histocompatibility complex (MHC) region between HLA-DR and C4. (nih.gov)
  • The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. (medlineplus.gov)
  • 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. (medlineplus.gov)
  • A total of 104 consecutive patients with Hashimoto's thyroiditis underwent coeliac serological tests (antigliadins, transglutaminase and endomysium antibodies) and HLA-DQ typing. (wjgnet.com)