Gene: HLA-DQB1

Alternate names for this Gene: CELIAC1|HLA-DQB|IDDM1

Gene Summary: HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DQ beta 1

Type of Gene: protein-coding

Gene: HLA-DQB1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs2854275 in HLA-DQB1;HLA-DQB1-AS1 gene and Antibody measurement (procedure) PMID 23326239 2013 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

rs28724231 in HLA-DQB1;HLA-DQB1-AS1 gene and Arthritis, Psoriatic PMID 30552173 2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.

rs2854275 in HLA-DQB1;HLA-DQB1-AS1 gene and Asthma PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs1770 in HLA-DQB1;HLA-DQB1-AS1 gene and Diabetes Mellitus, Insulin-Dependent PMID 31152121 2019 We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>).

rs9273401 in HLA-DQB1;HLA-DQB1-AS1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 27189021 2016 Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility.

rs2854275 in HLA-DQB1;HLA-DQB1-AS1 gene and Epstein-Barr Virus Infections PMID 23326239 2013 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

rs2854275 in HLA-DQB1;HLA-DQB1-AS1 gene and Major Depressive Disorder PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs9273542 in HLA-DQB1;HLA-DQB1-AS1 gene and Nephrotic Syndrome PMID 31263063 2019 Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

rs2854277 in HLA-DQB1;HLA-DQB1-AS1 gene and Physical Activity Measurement PMID 29899525 2018 Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE.

rs2515895 in HLA-DQB1;HLA-DQB1-AS1 gene and Sarcoidosis PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.