rs2854001

This is a upstream gene variant variant 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.

MHC class I polypeptide-related sequence A measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.65
p 5.0e-39
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele A
OR 1.06
p 1.0e-19
N 360,838
Large GWAS
European
Ferreira MAR et al. “Age-of-onset information helps identify 76 genetic variants associated with allergic disease.” Plos Genetics 16(6):e1008725 (2020)
Allele A
OR 0.04
p 1.0e-13
N 477,968
Large GWAS
European

systolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.38
p 3.0e-14
N 526,001
Large GWAS
European

allergic disease, age at onset

Ferreira MAR et al. “Age-of-onset information helps identify 76 genetic variants associated with allergic disease.” Plos Genetics 16(6):e1008725 (2020)
Allele A
OR 0.04
p 5.0e-13
N 117,130
Large GWAS
European

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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