Gene: HLA-B

Alternate names for this Gene: AS|B-4901|HLAB

Gene Summary: HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: major histocompatibility complex, class I, B

Type of Gene: protein-coding

rs1058026 in HLA-B gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 26039976 2015 Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.

rs1058026 in HLA-B gene and AIDS, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 26039976 2015 Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.

rs115392158 in HLA-B gene and Adenocarcinoma of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and Adenocarcinoma of lung (disorder) PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2428494 in HLA-B gene and Adult onset asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs2428494 in HLA-B gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs117486637 in HLA-B gene and Ankylosing spondylitis PMID 30946743 2019 Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.

PMID 22138694 2011 A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.

rs12191877 in HLA-B gene and Arthritis, Psoriatic PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs1093 in HLA-B gene and Asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

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

PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs4394274 in HLA-B gene and Behcet Syndrome PMID 23001997 2012 Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.

rs116576188 in HLA-B gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2524079 in HLA-B gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2853946 in HLA-B gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs115392158 in HLA-B gene and Breast Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2524163 in HLA-B gene and C-reactive protein measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs115392158 in HLA-B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and Carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs115437294 in HLA-B 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.

rs114444221 in HLA-B gene and Childhood 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.

rs115392158 in HLA-B gene and Colorectal Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and Colorectal Neoplasms PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2524043 in HLA-B gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2923008 in HLA-B gene and Diabetes PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs2923008 in HLA-B gene and Diabetes Mellitus PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1058026 in HLA-B gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs115392158 in HLA-B gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2524079 in HLA-B gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4947311 in HLA-B gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2523616 in HLA-B gene and Frontal fibrosing alopecia PMID 30850646 2019 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

rs9266237 in HLA-B gene and Gastroesophageal reflux disease PMID 31527586 2019 Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

rs2923008 in HLA-B gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs2524079 in HLA-B gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs9380236 in HLA-B gene and Graves Disease PMID 21900946 2011 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.

rs34213790 in HLA-B gene and HIV Infections PMID 28062682 2017 Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population.

rs2442719 in HLA-B gene and HIV-1 infection PMID 26039976 2015 Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.

rs1058026 in HLA-B gene and HIV-1, RESISTANCE TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 26039976 2015 Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.

rs1058026 in HLA-B gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 26039976 2015 Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.

rs2524081 in HLA-B gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17199328 in HLA-B gene and Herpes zoster disease PMID 30298529 2019 The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

rs34213790 in HLA-B gene and Hypersensitivity PMID 28062682 2017 Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population.

rs1625792 in HLA-B gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs9266229 in HLA-B gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2596501 in HLA-B gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs116438126 in HLA-B gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28158719 2017 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

PMID 21738480 2011 Multiple loci are associated with white blood cell phenotypes.

rs2596505 in HLA-B gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs115392158 in HLA-B gene and Malignant neoplasm of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs115392158 in HLA-B gene and Malignant tumor of colon PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2394982 in HLA-B gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3134792 in HLA-B gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs3132486 in HLA-B gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

PMID 20598377 2010 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.

rs2428494 in HLA-B gene and Nasal Polyps PMID 30643255 2019 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

rs2524079 in HLA-B gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs115392158 in HLA-B gene and Ovarian Serous Adenocarcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3819299 in HLA-B gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs116685461 in HLA-B gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2523616 in HLA-B gene and Postmenopausal frontal fibrosing alopecia PMID 30850646 2019 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

rs115392158 in HLA-B gene and Prostate carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12191877 in HLA-B gene and Psoriasis PMID 20953188 2010 Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.

PMID 19169254 2009 Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

PMID 30921485 2019 Genome-wide association study of psoriasis in an Egyptian population.

PMID 18364390 2008 Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.

PMID 17587057 2007 Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

rs111721712 in HLA-B gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2156875 in HLA-B gene and 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.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs1634775 in HLA-B 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.

rs115437294 in HLA-B 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.

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

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

rs114584519 in HLA-B gene and Serum albumin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs9266229 in HLA-B gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs116427960 in HLA-B gene and Small cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs115392158 in HLA-B gene and Squamous cell carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs117298325 in HLA-B gene and Takayasu Arteritis PMID 30498034 2018 Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis.

PMID 25604533 2015 Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.

rs2524163 in HLA-B gene and Triglycerides measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

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

rs9468925 in HLA-B gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.

rs114398276 in HLA-B gene and White Blood Cell Count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 28158719 2017 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

PMID 21738480 2011 Multiple loci are associated with white blood cell phenotypes.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 25096241 2014 Trans-ethnic meta-analysis of white blood cell phenotypes.

rs2523625 in HLA-B gene and body fat percentage (physical finding) PMID 31453325 2019 Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.

rs9266257 in HLA-B gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs115392158 in HLA-B gene and ovarian neoplasm PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.