The prevalence of C677T mutation in the methylenetetrahydrofolate reductase gene and its association with venous thrombophilia in Taiwanese Chinese.

C677T mutation of the methylenetetrahydrofolate reductase gene remains a controversial risk factor for venous thrombosis in Whites. The prevalence of methylenetetrahydrofolate reductase C677T genotype and its association with vascular thrombosis are not well established in Chinese population. We conducted a case-control study to investigate the prevalence of methylenetetrahydrofolate reductase C677T gene mutation and its association with venous thrombophilia in Taiwanese Chinese. The subjects consisted of 112 venous thrombophilic patients and 125 healthy controls, with similar age (p=0.08) and sex (p=0.58). The prevalent rates of C/T heterozygote were 32.8 and 44.6%; whereas those of T/T homozygote were 6.4 and 8.0% in the controls and patients, respectively. Neither C/T heterozygote (odds ratio, 1.7; 95% confidence interval, 1.0-3.0, p=0.05] nor T/T homozygote (odds ratio, 1.4; 95% confidence interval, 0.5-4.0, p=0.5) was significantly associated with venous thrombosis. Even when only subjects (52 patients and 107 controls) with normal inhibitor protein levels were analyzed, the association of T/T homozygote with venous thrombosis remained insignificant (p=0.06) with an odds ratio (95% confidence interval) of 3.4 (0.99-11.7). We concluded that, in Taiwanese Chinese, methylenetetrahydrofolate reductase C677T mutation is a common genetic mutation, but T/T homozygote is not a significant risk factor for venous thrombophilia.