Although the thermolabile MTHFR mutation is very common, it does not appear to be a significant genetic risk factor for typical late-onset vascular disease. Because MTHFR homozygotes have increased homocysteine with low folate levels, this mutation may contribute to early-onset or familial vascular disease. The genotype dependence of the folate-homocysteine correlation further suggests that homozygotes for this mutation may have both an exaggerated hyperhomocysteinemic response to folic acid depletion and a better response to folic acid therapy.
Background. Glutathione S-transferase T1 detoxifies some environmental carcinogens while activating others and is deleted in 15% to 38% of humans. We sought to determine whether GSTT1 genotype and genotypes of several related genes are associated with risk of squamous cell carcinoma of the head and neck (HNSCC).Methods. Somatic genotypes for GSTT1, GSTM1, GSTP1, and CYP1A1 were determined in 283 individuals with HNSCC and 208 population-based controls.Results. The OR for presence of GSTT1 was 1.6 (CI, 1.1 -2.5, p = .03). HNSCC risk was not associated with GSTM1 null genotype, the presence of the GSTP1 Val/Val genotype, or the Val/Val homozygous genotype for CYP1A1. Stratified analysis revealed disparate ORs for women (OR, 3.0; CI, 1.5 -6.3) and men (OR, 1.2; CI, 0.7 -2.1) for the presence of GSTT1.Conclusions. In this population, the presence of GSTT1 gene was associated with a significant increase in the risk of HNSCC.This association was particularly robust in women. B
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