高半胱氨酸及MTHFR基因C677T多态性与中国汉族人群脑白质病变的关系

Associations of plasma homocysteine level and MTHFR gene C677T polymorphism with white matter lesions in Chinese Han population

目的探讨血浆高半胱氨酸（homocysteine, Hcy）水平和亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase, MTHFR）基因C677T多态性与中国汉族人群脑白质病变（white matter lesions, WML）的关系。方法纳入104例WML患者和74例对照者，检测血浆Hcy水平和MTHFR基因C677T多态性，采用改良Scheltens量表评价WML程度。结果WML组血浆Hcy水平[中位数，四分位数间距；16.81（11.33～18.92）μmol/L对11.40（8.28～14.23）μmol/L；Z＝5.415，P＝0.001]和高同型半胱氨酸血症（hyperhomocysteinemia, HHcy）患者比例（85.6%对54.1%；χ2＝28.535，P〈0.001）均显著高于对照组，但MTHFR基因型（χ2＝1.255，0.534）和等位基因（χ2＝1.057，0.304）频率差异无统计学意义。在104例WML患者中，89例HHcy，15例Hcy正常，改良Scheltens量表评分分别为（8.06±5.61）分和（5.80±2.98）分，HHcy组显著高于Hcy正常组（t＝2.324，P＝0.027）。多变量logistic回归分析显示，年龄[优势比（odds ratio, OR）1.090，95%可信区间（confidence interval, CI）1.049～1.133；P＝0.001]、高血压（OR 1.719，95%CI 1.645～2.307；P〈0.001）和HHcy（OR 1.128，95%CI 1.044～1.219；P＝0.002）为WML的独立危险因素。结论HHcy是WML的独立危险因素，而MTHFR基因C677T多态性与WML无关。

ObjectiveTo investigate the associations of plasma homocysteine （Hcy） level and methylenetetrahydrofolate reductase （MTHFR） gene C677T polymorphism with white matter lesion （WML） in a Chinese Han population.MethodsA toal of 104 patients with WML and 74 controls were recruited. Hcy level and MTHFR gene C677T polymorphism were determined. The degree of severity of the WML was evaluated using a modified Scheltens scale.ResultsThe plasma Hcy level （median and interquartile range, 16.81[11.33-18.92]μmol/L vs. 11.40[8.28-14.23] μmol/L; Z=5.415, P=0.001） and the proportion （85.6% vs. 54.1%; χ2=28.535, P〈0.001） of patients with hyperhomocysteinemia （HHcy） in the WML group were significantly higher than those in the control group. However, there were no significant differences in the frequencies of C677T genotype （χ2=1.255, P=0.534） and allele （χ2=1.057, P=0.304）. There are 89 patients with HHcy and 15 patient with normal Hcy in 104 patients with WML. The modified Scheltens scale score in the HHcy subgroup was higher that in the normal Hcy subgroup （8.06±5.61 vs. 5.80±2.98; t=2.324, P=0.027）. Multivariate logistic regression analysis showed that age （odds ratio[OR] 1.090, 95% confidence interval [CI] 1.049-1.133; P=0.001）, hypertension （OR 1.719, 95% CI 1.645-2.307; P〈0.001）, and HHcy （OR 1.128, 95% CI 1.044-1.219; P=0.002） were the independent risk factors for white matter lesions.ConclusionsHHcy is an independent risk factor for WML, whereas the MTHFR gene C677T polymorphism is not associated with WML.