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)
Haplotypes5
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-DQA1 gene variants known as HLA-DQA1*05:01 or HLA-DQA1*05:05 bound to the protein produced from HLA-DQB1 gene variants known as HLA-DQB1*02:01 or HLA-DQB1*02:02 . (medlineplus.gov)
Type 1 diabetes risk is most increased by two HLA haplotypes involving variations of the HLA-DQA1 and HLA-DQB1 genes and another HLA gene called HLA-DRB1 . (medlineplus.gov)
Other HLA haplotypes only mildly increase the risk of type 1 diabetes, while some haplotypes seem to protect against developing this condition. (medlineplus.gov)
HLA- DQ2 and HLA-DQ8 testing is valuable because CD is unlikely if both haplotypes are negative. (vdocuments.net)
Locus3
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)
The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes). (wikipedia.org)
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)
Genes3
The HLA-DQA1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (medlineplus.gov)
The HLA-DQA1 gene belongs to a group of MHC genes called MHC class II. (medlineplus.gov)
Combinations of variations in the HLA-DQA1 gene and other HLA genes affect the risk of type 1 diabetes. (medlineplus.gov)
Alleles5
Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes. (wikipedia.org)
Again the DQB1*0201 and DQB1*0302 alleles, particularly the phenotype DQB1*0201/*0302 has a high risk of late onset 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-DQA1 gene, each of which is given a particular number (such as HLA-DQA1*05:01 ). (medlineplus.gov)
DQB16
HLA-DQB1 belongs to the HLA class II beta chain paralogues. (wikipedia.org)
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)
The protein produced from the HLA-DQA1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DQB1 . (medlineplus.gov)
The other haplotype, known as DQ8, is composed of the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*03:01 or HLA-DQA1*03:02 bound to the protein produced from the HLA-DQB1 gene variant known as HLA-DQB1*03:02 . (medlineplus.gov)
One haplotype, written as DRB1*03:01-DQA1*05:01-DQB1*02 , is called DR3. (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)
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)
Variants2
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)
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)
Immune2
The HLA-DQA1 gene provides instructions for making a protein that plays a critical role in the immune system. (medlineplus.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)
Type 1 diabet2
Type 1 diabetes is characterized by high blood sugar (glucose) levels resulting from a shortage of the hormone insulin and is caused by autoimmune damage to insulin-producing cells in the pancreas. (medlineplus.gov)
People at highest risk of developing type 1 diabetes have one copy of the DR3 haplotype and one copy of the DR4 haplotype in each cell. (medlineplus.gov)
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)
Class1
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)
Cells1
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)
Complex1
Together, they form a functional protein complex called an antigen-binding DQαβ heterodimer. (medlineplus.gov)
Haplotype3
The other haplotype, known as DQ8, is composed of the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*03:01 or HLA-DQA1*03:02 bound to the protein produced from the HLA-DQB1 gene variant known as HLA-DQB1*03:02 . (medlineplus.gov)
One haplotype, written as DRB1*03:01-DQA1*05:01-DQB1*02 , is called DR3. (medlineplus.gov)
People at highest risk of developing type 1 diabetes have one copy of the DR3 haplotype and one copy of the DR4 haplotype in each cell. (medlineplus.gov)
Immune system2
The HLA-DQA1 gene provides instructions for making a protein that plays a critical role in the immune system. (medlineplus.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)
Risk2
The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes). (wikipedia.org)
HLA-B7 (often with DR4) conferred novel risk in 21OH-AA + SA-AD vs controls. (nih.gov)