rs4646422
This is a variant in the CYP1A1 gene that changes a glycine to an aspartate.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶The Association of CYP1A1 Gene With Cervical Cancer and Additional SNP–SNP Interaction in Chinese WomenAssociationN=728Shuhong Li et al.(2016)· Journal of Clinical Laboratory Analysis
This case-control study examined the association between CYP1A1 gene polymorphisms and cervical cancer risk in 728 Chinese women (360 cases, 368 controls). The rs4646903 polymorphism showed significant association with increased cervical cancer risk (OR=1.45, 95% CI 1.20-1.95 for TC+CC vs TT genotypes). A significant SNP-SNP interaction was identified between rs4646903 and rs1048943 (P=0.0107), with subjects carrying TC/CC at rs4646903 and AG/GG at rs1048943 having the highest risk (OR=2.03, 95% CI 1.42-2.89).
About CYP1A1
This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
View all CYP1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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