rs16906252

This study investigated the association of MGMT enhancer variant rs11016629 with glioma susceptibility and progression in 402 patients and 654 controls. The TG genotype was associated with increased glioma risk (OR=1.41, 95% CI 1.03-1.93, P=0.034), particularly in WHO grade IV tumors (OR=1.59, P=0.023). In patients who underwent gross total resection, carriers with TG/TT genotypes had worse progression-free survival (HR=2.66, 95% CI 1.23-5.79, P=0.014) compared to GG carriers.

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.