Liu Xiao-ning, Song Li, Wang Dao-wen, Liao Yu-hua, Ma Ai-qun, Zhu Zhi-ming, Zhao Bing-rang, Zhao Ji-zong, Hui Ru-tai
Sino-German Laboratory for Medicine and Division of Coronary Heart Disease, Fuwai Heart Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China.
Zhonghua Yi Xue Za Zhi. 2004 Dec 2;84(23):1959-62.
To assess whether thrombospondin-1 (THBS-1) gene G1678A polymorphism is associated with stroke.
Samples of venous blood were collected from 1634 patients with stroke, including cerebral thrombosis, lacunar cerebral infarction, and cerebral hemorrhage confirmed by CT or MRI, and sex-, and age-matched 1171 controls without cerebrovascular diseases. Genotypes were determined with polymerase chain reaction and allele-specific restriction enzyme analysis.
The frequency of the THBS-1 gene 1678 AA genotype (0.503 vs. 0.441) was significantly higher in the cerebral thrombosis group than in the controls (P = 0.008). The frequency of the G allele (0.299 vs. 0.339) was significantly lower in the cerebral thrombosis group than in the controls (P = 0.009). No significant difference was seen in THBS-1 gene 1678 AA polymorphism either between the lacunar cerebral infarction group and the control group or between the cerebral hemorrhage group and the control group (all P > 0.05). Multiple logistic regression analysis showed that the AA genotype of THBS-1 gene G1678A carriers had a higher risk of cerebral thrombosis (OR: 1.4; 95% CI 1.083 - 1.693; P = 0.008) after adjustment for age, sex, SBP, DBP, BMI, smoking, TC, TG, HDL-C, LDL-C and Glu.
AA genotypes in THBS-1 gene G1678A polymorphism may be a genetic risk factor of cerebral thrombosis in Chinese population.
评估血小板反应蛋白-1（THBS-1）基因G1678A多态性与中风是否相关。
收集1634例中风患者的静脉血样本，包括经CT或MRI确诊的脑血栓形成、腔隙性脑梗死和脑出血患者，以及1171例年龄和性别匹配的无脑血管疾病的对照者。采用聚合酶链反应和等位基因特异性限制性酶切分析确定基因型。
脑血栓形成组中THBS-1基因1678 AA基因型的频率（0.503对0.441）显著高于对照组（P = 0.008）。脑血栓形成组中G等位基因的频率（0.299对0.339）显著低于对照组（P = 0.009）。腔隙性脑梗死组与对照组之间或脑出血组与对照组之间，THBS-1基因1678 AA多态性均无显著差异（所有P>0.05）。多因素logistic回归分析显示，在调整年龄、性别、收缩压、舒张压、体重指数、吸烟、总胆固醇、甘油三酯、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和血糖后，THBS-1基因G1678A携带者的AA基因型患脑血栓形成的风险更高（比值比：1.4；95%可信区间1.083 - 1.693；P = 0.008）。
THBS-1基因G1678A多态性中的AA基因型可能是中国人群脑血栓形成的遗传危险因素。
