rs477692
This is a intron variant variant in the MGMT gene.
▶Research that mentions this SNP (1)
▶Genetic variants inMGMTand risk of lung cancer in Southeastern Chinese: a haplotype-based analysisAssociationN=1,017Zhibin Hu et al.(2007)· Human Mutation
This haplotype-based association study of 500 lung cancer cases and 517 controls examined genetic variation in the MGMT gene (a DNA repair protein) in southeastern Chinese population. Using multifactor dimensionality reduction (MDR) analysis, researchers identified significant gene-environment interactions between MGMT haplotypes (particularly block 5 diplotypes and preblock SNP rs1625649:C>A) and smoking status. Subjects carrying the combined risk genetic and smoking stratum had a 4.10-fold increased lung cancer risk (OR=4.10, 95% CI=3.12-5.37, P=2.09×10^-24), suggesting MGMT variants modulate smoking-related lung cancer susceptibility.
About MGMT
Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]
View all MGMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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