rs9267665
This is a upstream gene variant variant in the C2 gene.
▶Research that mentions this SNP (1)
▶Cancer risk in chronic hepatitis B: Do genome-wide association studies hit the mark?ReviewMarkus Casper et al.(2011)· Hepatology
This review synthesizes genome-wide association studies (GWAS) identifying host genetic factors affecting hepatitis B virus (HBV) infection outcomes. HBV persistence is predominantly associated with HLA genes (HLA-DP, HLA-DQ, HLA-C with OR 0.46-2.31) and immune-related genes including CFB, NOTCH4, CD40, UBE2L3, TCF19, and EHMT2. HBV persistence and hepatitis B vaccine nonresponse share overlapping genetic bases with HLA variants, while genetic risk factors for advanced liver diseases (cirrhosis, hepatocellular carcinoma) are largely distinct.
About C2
Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
View all C2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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