Gene: HLA-DRA

Alternate names for this Gene: HLA-DRA1

Gene Summary: HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, 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 alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DR alpha

Type of Gene: protein-coding

rs13218331 in HLA-DRA gene and Allergic Reaction PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

rs2239805 in HLA-DRA gene and C4 complement assay (procedure) PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs116817194 in HLA-DRA gene and Chloride measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2239804 in HLA-DRA gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs116348849 in HLA-DRA gene and Eosinophil count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2213585 in HLA-DRA 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).

rs9268645 in HLA-DRA gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

rs3129882 in HLA-DRA gene and Hodgkin Disease PMID 24149102 2013 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.

rs3177928 in HLA-DRA gene and Low density lipoprotein cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs2239804 in HLA-DRA gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

rs3129871 in HLA-DRA gene and Mucocutaneous Lymph Node Syndrome PMID 22446962 2012 A genome-wide association study identifies three new risk loci for Kawasaki disease.

rs2395182 in HLA-DRA gene and Multiple Sclerosis PMID 20598377 2010 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.

PMID 23472185 2013 Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.

PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

PMID 19525953 2009 Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

PMID 25616667 2015 Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.

rs7194 in HLA-DRA gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs3129878 in HLA-DRA gene and Non-obstructive azoospermia PMID 22541561 2012 A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.

rs3129882 in HLA-DRA gene and Parkinson Disease PMID 24511991 2014 HLA_rs3129882 was more strongly associated with Sporadic-PD (OR = 1.38, P = 5 × 10(-10)) than Familial-PD (OR = 1.12, P = 0.15).

PMID 20711177 2010 Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

rs7194 in HLA-DRA gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs3129887 in HLA-DRA gene and Primary biliary cirrhosis PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.

PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.

rs1041885 in HLA-DRA gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs2213584 in HLA-DRA 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.

PMID 26651848 2016 High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

PMID 19165924 2008 Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.

rs3177928 in HLA-DRA gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

rs17496549 in HLA-DRA gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs3135394 in HLA-DRA gene and Sjogren's Syndrome PMID 24097067 2013 Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

rs3129871 in HLA-DRA gene and Systemic Scleroderma PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

PMID 21779181 2011 Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

rs3177928 in HLA-DRA gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2239802 in HLA-DRA gene and Ulcerative Colitis PMID 28008999 2016 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.