rs1264459
This is a upstream gene variant variant in the HLA-E gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte count
▶Research that mentions this SNP (1)
▶Promoter polymorphisms of the HLA-G gene, but not the HLA-E and HLA-F genes, is associated with non-segmental vitiligo patients in the Korean populationAssociationN=636Su Kang Kim et al.(2011)· Archives of Dermatological Research
A case-control study of 241 Korean patients with non-segmental vitiligo and 395 healthy controls examined three HLA class I promoter SNPs. The rs1736936 (HLA-G) SNP showed significant association with vitiligo in the recessive model (OR=1.67, p=0.045 after Bonferroni correction) and was associated with age of onset. rs1264459 (HLA-E) and rs9258170 (HLA-F) showed no significant associations.
About HLA-E
HLA-E 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. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 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. [provided by RefSeq, Jul 2008]
View all HLA-E variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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