rs4646421
This variant is located in the CYP1A1 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.
▶Research that mentions this SNP (1)
▶Xenobiotic‐Metabolizing gene polymorphisms and ovarian cancer riskAssociationN=3,617Ellen L. Goode et al.(2011)· Molecular Carcinogenesis
A case-control study of 1,571 ovarian cancer cases and 2,046 controls found associations between xenobiotic-metabolizing gene polymorphisms and ovarian cancer risk. EPHX1 rs1051740 was associated with increased serous ovarian cancer risk (OR 1.17, p = 0.01), ADH4 rs1042364 with decreased ovarian cancer risk (OR 0.90, p = 0.05), and NQO1 rs2917666 with increased ovarian cancer risk (OR 1.11, p = 0.04).
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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