亚甲基四氢叶酸还原酶基因C677T多态性与中国山东地区汉族人群缺血性卒中、高尿酸血症的相关性  

Correlations of methylenetetrahydrofolate reductase gene C677T polymorphism with ischemic stroke and hyperuricemia in Chinese Han population in Shandong, China

作　　者：魏守超 刘志辉[1] 刘君玲[1] 

机构地区：[1]潍坊医学院神经病学教研室,261531

出　　处：《国际脑血管病杂志》2016年第11期1004-1009,共6页International Journal of Cerebrovascular Diseases

基　　金：山东省自然科学基金（ZR2015HL042）;潍坊市科技技术发展计划项目（2015WS050）;潍坊市卫生局科技项目（2014039）

摘　　要：目的探讨亚甲基四氢叶酸还原酶（methylene tetrahydrofolate reductase，MTttFR）基因C677T多态性与中国山东地区汉族人群缺血性卒中、高尿酸血症的相关性。方法纳入山东地区汉族急性缺血性卒中患者和年龄、性别相匹配的对照者。采用聚合酶链反应扩增和芯片杂交显色技术检测MTHFR基因C677T多态性，并测定血清尿酸浓度。结果共纳入山东地区汉族急性缺血性卒中患者145例和年龄、性别相匹配的对照者145名。缺血性卒中组糖尿病构成比（26．90％对6．89％；x^2=20．653，P〈0．001）以及空腹血糖[（5．56±1．57）mmol／L对（5．01±1．11）mmol/L；t=-3．390，P=0．001]、高半胱氨酸[中位数，四分位数间距：18．2（16．30～22．55）ixmol／L对15．20（12．10～17．85）μmol／L；Z=-6．323，P〈0．001]和尿酸[43．0（361．60～490．45）μmol／L对285．9（267．00～346．25）μmol／L；Z=-10．360，P〈0．001]水平均显著高于对照组；缺血性卒中组TT基因型（42．07％对15．17％；x^2=25．673，P〈0。001）和T等位基因（58．28％对34．48％；x^2=33．008，P〈0．001）分布频率均显著高于对照组。多变量logistic回归分析显示，尿酸[优势比（oddsratio，OR）1．018，95％可信区间（confidenceinterval，co1．013～1．024；P〈0．001]、TT基因型（对CT基因型，OR6．774，95％CI1．779～25．507；P=0．005）、高血压（OR1．919，95％CI1．013～3．636；P=0．045）、高半胱氨酸（OR1．153，95％CI1．059～1．258；P=0．001）为缺血性卒中的独立危险因素。将缺血性卒中组与对照组合并，共101例存在高尿酸血症，189例尿酸正常。高尿酸血症组糖尿病患者构成比（32．67％对11．64％；矿：23．749，P〈0．001）以及总胆固醇[（5．67±1．56）mmol／L对（5．10±1．33）mmol／L；t=-3．255，P〈0．001]和高半胱氨酸[19．50（17．10～24．70）μmol／L对15．40（12．60�Objective To investigate the correlations of methylenetetrahydrofolate reductase （MTHFR） gene C677T polymorphism with ischemic stroke and hyperuricemia in Chinese Han population in Shandong, China.Methods The patients with acute ischemic stroke and ageand sex-matched controls in Chinese Han population in Shandong, China were enrolled. Polymerase chain reaction amplification and microarray hybridization were used to detect the MTHFR gene C677T polymorphism, and the serum uric acid concentration was measured. Resulls A total of 145 patients with acute ischemic stroke and 145 age-and sex-matched controls in Chinese Han population in Shandong, China were enrolled. The proportion of diabetes （26.90% vs. 6. 89%; x^2= 20.653, P〈 0.001 ） and fasting blood glucose （5.56± 1.57 mmol/L vs. 5.01 ± 1.11 mmol/L; t = -3.390, P =0. 001）, homocysteine （median, interquartile range： 18.2116.30-22.55 μmol/L] vs. 15.20112. 10-17.85 μmol/L]; Z= -6.323, P〈0.001）, and uric acid （43.0-361.60-490.45 μmol/L] vs. 285.9[267.00-346. 25 μmogL] ; Z = - 10. 360, P 〈 0. 001） levels in the ischemia stroke group were significantly higher than those in the control group. The distrNution frequencies of TT genotype （42. 07% vs. 15.17% ; x^2 = 25. 673, P 〈 0. 001 ） and T allele （58.28% vs. 34.48% ;x^2 =33. 008, P 〈0. 001） in the ischemla stroke group were significantly higher than those in the control group. Multivariate logistic regression analysis showed that the uric acid （odds ratio [ OR] 1. 018, 95% confidence interval [ CI] 1.013-1.024; P〈 0.001）, TT genotype （vs. CT genotype OR 6.774, 95% CI 1. 779-25.507; P = 0. 005）, hypertension （OR 1. 919, 95% CI 1. 013-3. 636; P = 0. 045）, and homocysteine （OR 1. 153, 95% CI 1. 059-1. 258; P =0. 001） were the independent risk factors for ischemic stroke. The ischemic stroke group was combined with the control group, a total of 101 patients had hyperuricemia, and 189 had normal uric acid. The proportion in patients with diabetes （32.67% vs. 11.

关 键 词：卒中 脑缺血 亚甲基四氢叶酸还原酶(NADPH) 多态现象 遗传学 尿酸 高尿酸血 症 疾病遗传易感性 危险因素 汉族 

分 类 号：R743.3[医药卫生—神经病学与精神病学] R589.7[医药卫生—临床医学]