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目的探讨低密度脂蛋白受体基因(low density lipoprotein receptor gene,LDLR)C1773T多态性与长沙汉族人群脑出血的关系及其对血脂水平的影响。方法采用SNaPshot和DNA直接测序法检测2005年1月至2009年1月在湘雅医院神经内科就诊的273例脑出血患者(脑出血组)和140名健康对照人群(对照组)的LDLR基因C1773T多态;氧化酶法测定血清甘油三酯、总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇水平。结果脑出血组和对照组的LDLR-C1773T多态CC/CT/TT基因型频率分别为0.703/0.278/0.019、0.707/0.250/0.043,两组的C、T等位基因频率分别为0.842/0.158、0.832/0.168。两组相比基因型频率及等位基因频率无统计学差异(P>0.05);脑出血组和对照组中LDLR基因C1773T多态CC、CT与TT基因型间血脂水平无统计学差异(P>0.05)。结论LDLR-C1773T多态T等位基因与长沙汉族人群脑出血的发病及其血脂水平可能无关。
Objective To investigate the relationship between low density lipoprotein receptor gene (LDLR) C1773T polymorphism and cerebral hemorrhage in Han nationality in Changsha and its effect on serum lipids. Methods The SNPs of LDLR gene C1773T in 273 patients with intracerebral hemorrhage (ICH) and 140 healthy controls (control group) from January 2005 to January 2009 in Department of Neurology, Xiangya Hospital were detected by SNaPshot and DNA direct sequencing. Polymorphism; Oxidase method for the determination of serum triglyceride, total cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol levels. Results The frequency of LDLR-C1773T polymorphism was 0.703 / 0.278 / 0.019 and 0.707 / 0.250 / 0.043 respectively in ICH group and control group, and the frequencies of C and T allele were 0.842 / 0.158 , 0.832 / 0.168. There was no significant difference in genotype frequency and allele frequency between the two groups (P> 0.05). There was no significant difference in LDLR C1773T polymorphism between CT and TT genotypes in cerebral hemorrhage and control groups (P > 0.05). Conclusion The polymorphism of LDLR-C1773T T allele may not be related to the incidence of cerebral hemorrhage and serum lipids in Han nationality in Changsha.