rs2734414
This is a regulatory region variant variant in the KLRC1 gene.
▶Research that mentions this SNP (1)
▶Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese populationAssociationN=500Juan Ma et al.(2010)· Journal of Medical Virology
This case-control association study of 500 Han Chinese patients analyzed genetic polymorphisms in NK cell receptor genes for association with chronic hepatitis B susceptibility. The TT genotype of rs2617160 in the NKG2D gene was independently associated with increased risk of chronic hepatitis B (P=0.044, OR=1.49, 95% CI=1.01-2.19), appearing more frequently in chronically infected patients (37.9%) than those who spontaneously cleared HBV (29.3%). Haplotype analysis of four NK receptor genes (KLRD1, KLRK1, KLRC4, KLRC1) showed no significant associations.
About KLRC1
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
View all KLRC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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