Gene: HLA-DRB1

Alternate names for this Gene: DRB1|HLA-DR1B|HLA-DRB|SS1

Gene Summary: HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

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

Type of Gene: protein-coding

rs9269853 in HLA-DRB1 gene and Alzheimer's Disease PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

rs2454138 in HLA-DRB1 gene and Antibody measurement (procedure) PMID 29521573 2019 Effect of HLA-DRB1 alleles and genetic variants on the development of neutralizing antibodies to interferon beta in the BEYOND and BENEFIT trials.

PMID 23326239 2013 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

rs1064713 in HLA-DRB1 gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs2647074 in HLA-DRB1 gene and Bilirubin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1059362 in HLA-DRB1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2647062 in HLA-DRB1 gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs11753207 in HLA-DRB1 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.

rs9270750 in HLA-DRB1 gene and Chronic Lymphocytic Leukemia PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

rs615672 in HLA-DRB1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2516049 in HLA-DRB1 gene and Crohn Disease PMID 23266558 2013 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.

PMID 26891255 2016 HLA-C*01 is a Risk Factor for Crohn's Disease.

rs9461776 in HLA-DRB1 gene and Cryoglobulinemia PMID 25030430 2014 Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.

rs4713555 in HLA-DRB1 gene and Dermatitis, Atopic PMID 26482879 2015 Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

rs2516049 in HLA-DRB1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2516049 in HLA-DRB1 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).

rs9461776 in HLA-DRB1 gene and Hepatitis C, Chronic PMID 25030430 2014 Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.

rs28366301 in HLA-DRB1 gene and High density lipoprotein measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2516049 in HLA-DRB1 gene and Hodgkin Disease PMID 24149102 2013 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.

rs2516049 in HLA-DRB1 gene and Hypothyroidism PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.

rs660895 in HLA-DRB1 gene and IGA Glomerulonephritis PMID 22197929 2011 We also found that rs660895 was associated with clinical subtypes of IgAN (P = 0.003), proteinuria (P = 0.025) and IgA levels (P = 0.047).

PMID 26028593 2015 Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

rs477515 in HLA-DRB1 gene and Inflammatory Bowel Diseases PMID 18758464 2008 Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.

rs602875 in HLA-DRB1 gene and Leprosy PMID 20018961 2009 Genomewide association study of leprosy.

PMID 25642632 2015 Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.

rs660895 in HLA-DRB1 gene and Lupus Erythematosus, Systemic PMID 23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

PMID 19838193 2009 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.

rs28605404 in HLA-DRB1 gene and Lymphoma, Follicular PMID 23025665 2012 A meta-analysis of genome-wide association studies of follicular lymphoma.

rs28366298 in HLA-DRB1 gene and Malignant neoplasm of lung PMID 23143601 2012 Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.

rs2760995 in HLA-DRB1 gene and Microalbuminuria PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs2454138 in HLA-DRB1 gene and Multiple Sclerosis PMID 29521573 2019 Effect of HLA-DRB1 alleles and genetic variants on the development of neutralizing antibodies to interferon beta in the BEYOND and BENEFIT trials.

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

rs9270986 in HLA-DRB1 gene and Myasthenia Gravis PMID 25643325 2015 A genome-wide association study of myasthenia gravis.

rs615672 in HLA-DRB1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

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.

rs28366266 in HLA-DRB1 gene and Nephrotic Syndrome PMID 29903748 2018 Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

rs2858870 in HLA-DRB1 gene and Nodular Sclerosis Classical Hodgkin Lymphoma PMID 22086417 2012 These SNPs are found on 2 haplotypes associated with NSHL risk (rs204999-rs9268528-rs9268542-rs6903608-rs2858870; AGGCT, OR = 1.7, P = 1.71 × 10(-6); GAATC, OR = 0.4, P = 1.16 × 10(-4)).

rs17425622 in HLA-DRB1 gene and Parkinson Disease PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs2516049 in HLA-DRB1 gene and Pemphigus Vulgaris PMID 22437316 2012 Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.

rs615672 in HLA-DRB1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs9270493 in HLA-DRB1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2516049 in HLA-DRB1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 21673997 2011 Myelin basic protein as a novel genetic risk factor in rheumatoid arthritis--a genome-wide study combined with immunological analyses.

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

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

PMID 17554300 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

rs113520250 in HLA-DRB1 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.

rs11753207 in HLA-DRB1 gene and Schizophrenia 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.

rs9270750 in HLA-DRB1 gene and Small Lymphocytic Lymphoma PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

rs477515 in HLA-DRB1 gene and Temporal Arteritis PMID 25817017 2015 A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.

rs76901167 in HLA-DRB1 gene and Ulcerative Colitis PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs3021304 in HLA-DRB1 gene and Uveomeningoencephalitic Syndrome PMID 25108386 2014 We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97).

rs2516049 in HLA-DRB1 gene and Vitiligo PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.

PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.