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

rs3891175 in HLA-DQB1 gene and Allergic Reaction PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

rs201184533 in HLA-DQB1 gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs3891175 in HLA-DQB1 gene and Autoimmune Chronic Hepatitis PMID 28779025 2018 Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

rs3891175 in HLA-DQB1 gene and Autoimmune Hepatitis with Centrilobular Necrosis PMID 28779025 2018 Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

rs281862010 in HLA-DQB1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs9274407 in HLA-DQB1 gene and Chemical and Drug Induced Liver Injury PMID 21570397 2011 Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.

rs9274299 in HLA-DQB1 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs3891175 in HLA-DQB1 gene and Cholangitis, Sclerosing PMID 28779025 2018 Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

rs114544105 in HLA-DQB1 gene and Forced expiratory volume function PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs3189152 in HLA-DQB1 gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

rs9274407 in HLA-DQB1 gene and Liver carcinoma PMID 23242368 2013 Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

rs9274614 in HLA-DQB1 gene and Lymphoma, Follicular PMID 23025665 2012 A meta-analysis of genome-wide association studies of follicular lymphoma.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of anterior portion of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of lateral floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of other sites within the lip and oral cavity PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of other specified parts of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Malignant neoplasm of posterior wall of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs9274477 in HLA-DQB1 gene and Narcolepsy PMID 24204295 2013 Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.

rs9274477 in HLA-DQB1 gene and Narcolepsy-Cataplexy Syndrome PMID 24204295 2013 Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.

rs3828805 in HLA-DQB1 gene and Oropharyngeal Carcinoma PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Pharyngeal Neoplasms PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs3828805 in HLA-DQB1 gene and Primary malignant neoplasm of lateral wall of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs201386475 in HLA-DQB1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs2854272 in HLA-DQB1 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.

rs77296290 in HLA-DQB1 gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs142471762 in HLA-DQB1 gene and Serum iron measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs4642515 in HLA-DQB1 gene and Transferrin saturation measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs3828805 in HLA-DQB1 gene and malignant neoplasm of lateral wall of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs9274247 in HLA-DQB1 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.