MTHFR C677T mutation in central retinal vein occlusion: a case-control study in Chinese population.

Our previous study found that hyperhomocysteinemia was strongly associated with central retinal vein occlusion (CRVO) in the Chinese population. The aim of this study is to determine whether MTHFR C677T mutation is an independent risk factor for CRVO in the Chinese population. A matched case-control study was conducted between July 2004 and May 2005. The study cohort consisted of 64 individuals that had been diagnosed with CRVO and 64 healthy controls (matched for age, gender, hypertension, smoking, and drinking habits). None of the cases or controls had a history of diabetes, glaucoma, medication or any other vascular events that might influence plasma homocysteine levels. A cross-sectional analysis among the 64 cases was performed to compare the prevalence of MTHFR C677T mutation among subjects with and without ischemia and subjects aged above 45 and below 45 years. MTHFR C677T mutation was determined by the template-directed dye-terminator incorporation with fluorescence polarization (TDI-FP) method. The result showed that the prevalence of the MTHFR 677 TT genotype did not significantly differ between patients and controls. However, 10 (34.5%) MTHFR C677 TT genotype was found in the ischemic group but only 4 (14.3%) in the nonischemic group (p=0.026). And we found that 6 MTHFR C677 TT genotype patients who have hyperhomocysteinemia in the ischemic group but only 2 in the nonischemic group (p=0.016). It suggests that MTHFR C677T mutation is associated with hyperhomocysteinemia in the ischemic CRVO in the Chinese population. It may contribute to hyperhomocysteinemia and associate with the development of CRVO.