• The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (medlineplus.gov)
  • 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)
  • Celiac1 is a genetic name for DQB1, the HLA DQB1*0201, *0202, and *0302 encode genes that mediate the autoimmune coeliac disease. (wikipedia.org)
  • Homozygotes of DQB1*0201 have a higher risk of developing the celiac disease, relative to any other genetic locus. (wikipedia.org)
  • OBJECTIVE- HLA-DRB1* 03 -DQB1* 0201 /DRB1* 04 -DQB1* 0302 ( DR3/4-DQ8 ) siblings who share both major histocompatibility complex (MHC) haplotypes identical-by-descent with their proband siblings have a higher risk for type 1A diabetes than DR3/4-DQ8 siblings who do not share both MHC haplotypes identical-by-descent. (diabetesjournals.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)
  • 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 belongs to a group of MHC genes called MHC class II. (medlineplus.gov)
  • More than 60 genes have been identified to affect the risk of T1D, with the HLA loci having the greatest impact on susceptibility. (medcraveonline.com)
  • The association of T1D with alleles at HLA loci, especially the HLA class II genes DR and DQ, is well-established. (medcraveonline.com)
  • 4 -7 These studies indicate critical and significant interactions among different genes and/or loci within or linked to the MHC or non-MHC genes. (medcraveonline.com)
  • 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)
  • The HLA-DQB1 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)
  • It is unclear how HLA-DQB1*06:02 causes this elevated risk. (medlineplus.gov)
  • However, it is unclear how accurately the RM model reflects HLA-E immunobiology in humans. (bvsalud.org)
  • HLA-DQB1 belongs to the HLA class II beta chain paralogues. (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)
  • The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. (wikipedia.org)
  • Data were technically validated using published algorithms to evaluate donor relatedness, ancestry, imputed HLA, and T1D genetic risk score. (nature.com)
  • 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)
  • Class II molecules are expressed in antigen-presenting cells (APC: B lymphocytes, dendritic cells, macrophages). (wikipedia.org)
  • 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)
  • The protein produced from the HLA-DQB1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DQA1 . (medlineplus.gov)
  • Together, they form a functional protein complex called an antigen-binding DQαβ heterodimer. (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)
  • therefore, HLA is not an adequate measure to evaluate the risk of T1D. (medcraveonline.com)
  • To determine the effects of cytokine gene polymorphisms in the pathogenesis of T1D, high risk interferon-gamma (IFN-γ), interleukin-6 (IL-6) as well as transforming growth factor β (TGF-β) gene polymorphisms were considered in HLA DRDQ fixed patients with T1D. (medcraveonline.com)
  • However, a larger scale case control study is required to confirm these findings and to determine the functionality of cytokines and the high-risk HLA patients. (medcraveonline.com)
  • Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes. (wikipedia.org)
  • We confirmed that the HLA-DR3-DQ2 and the DQB1*0302-DRB1*0404 haplotypes confer disease susceptibility. (nih.gov)
  • Analysis of 11 microsatellite markers including STR MICA confirmed the strong linkage in DR3-DQ2 haplotypes but DRB1*0404-DQB1*0302 haplotypes were diverse. (nih.gov)
  • HLA haplotypes were assigned with certainty by segregation (pedigree) analysis, and haplotype frequencies were obtained by direct counting. (bvsalud.org)
  • DRB1*03~DQB1*02 (21.2%), DRB1*16~DQB1*05 (17.3%), B*35~C*04 (11.7%), B*08~DRB1*03 (9.7%), A*02~B*51 (7.5%), and A*26~C*07~B*08~DRB1*03~DQB1*02 (4.2%) were the most frequent two- and five-locus HLA haplotypes. (bvsalud.org)
  • This study evaluated the association of DRB1 and DQB1 alleles, genotypes, and haplotypes with T1D in United Arab Emirates. (bvsalud.org)
  • Conclusion: While DRB1 and DQB1 alleles and haplotypes associated with T1D in Emiratis showed similarities to Caucasian and non-Caucasian populations, several alleles and haplotypes associated with T1D in European, African, and Asian populations, were not observed. (bvsalud.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)
  • MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donor hematopoietic transplantation and disease association studies. (cdc.gov)
  • Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia. (cdc.gov)
  • 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)
  • Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies, predict insulin dependence in latent autoimmune diabetes of adults. (cdc.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)
  • The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. (wikipedia.org)
  • HLA class I and class II frequencies in Emiratis were compared to data from other populations using standard genetic distances (SGD), Neighbor-Joining (NJ) phylogenetic dendrograms, and correspondence analysis. (bvsalud.org)
  • Background: HLA class II (DR and DQ) alleles and antigens have historically shown strong genetic predisposition to type 1 diabetes (T1D). (bvsalud.org)
  • Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes. (wikipedia.org)
  • Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes. (cdc.gov)
  • Addison's disease patients from three European populations were analysed for selected HLA-DR-DQ alleles and for 11 microsatellite markers covering approximately 4 Mb over the HLA region. (nih.gov)
  • This underscores the contribution of ethnic diversity and possible diverse associations between DRB1 and DQB1 and T1D across different populations. (bvsalud.org)
  • HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos. (cdc.gov)
  • Results: In total, 15 DRB1 and 9 DQB1 alleles were identified in the study subjects, of which the association of DRB1*03:01, DRB1*04:02, DRB1*11:01, DRB1*16:02, and DQB1*02:01, DQB1*03:02, DQB1*03:01, and DQB1*06:01 with altered risk of T1D persisted after correcting for multiple comparisons. (bvsalud.org)
  • Association measures for HLA-DRB1, DQB1, DQA1 and 11 microsatellites between D6S273 and D6S2223 were taken. (nih.gov)
  • The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes). (wikipedia.org)
  • Certain HLA-DQB1 alleles are also linked to a modest increased risk of multiple sclerosis. (wikipedia.org)
  • Furthermore, the highest T1D risk was observed for DR3/DR4 [0.104 vs. 0.006, OR = 25.03 (8.23-97.2), Pc = 2.6 × 10-10], followed by DR3/DR3 [0.094 vs. 0.010, OR = 8.72 (3.17-25.32), Pc = 3.18 × 10-8] diplotypes. (bvsalud.org)
  • It is unclear how HLA-DQB1*06:02 causes this elevated risk. (medlineplus.gov)
  • RESULTS: The studied HLA loci were in Hardy-Weinberg Equilibrium. (bvsalud.org)
  • Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA. (cdc.gov)
  • Cases and controls were Emiratis and were HLA-DRB1 and -DQB1 genotyped using sequence-based typing. (bvsalud.org)