rs2523608

This variant is located in the HLA-B gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (2)

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Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin
AssociationN=6,738Adrienne Tin et al.(2013)· Human Genetics

Genome-wide association study of plasma beta-2 microglobulin (B2M) levels in 6,738 European Americans identified two genome-wide significant loci: the HLA region on chromosome 6 (rs9264638, p=1.8×10⁻²³) and SH2B3 on chromosome 12 (rs3184504, p=3.1×10⁻⁸). Six index SNPs in the HLA region accounted for 3.2% of log(B2M) variance and their associations were largely explained by imputed classical HLA alleles (HLA-A, HLA-B, HLA-C). The HLA locus was not associated with estimated glomerular filtration rate, while the SH2B3 locus had previously been implicated as an eGFR locus, confirming B2M as a kidney function biomarker.

Traits studied:Chronic kidney diseaseGlomerular filtration rate (eGFRcr)Kidney functionPlasma beta-2 microglobulin levels
PubMedDOIMetascience Observatory
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Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring
ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis
PubMedDOIMetascience Observatory

About HLA-B

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. [provided by RefSeq, Jul 2008]

View all HLA-B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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