蛋白激酶Cη基因1425G／A多态与脑梗死的遗传易患性  

Study on the association between SNP 1425G/A in protein kinase Cη gene and genetic susceptibility of cerebral infarction

作　　者：宋新建[1] 王枫[1] 周勇[2] 李晓波[3] 沈晓明[4] 丁海霞[1] 姚娟[1] 邓晓萱[1] 丁新生[1] 

机构地区：[1]南京医科大学第一附属医院神经内科,210029 [2]南通市第一人民医院神经内科 [3]江苏省苏北人民医院神经内科 [4]南通市第二人民医院神经内科

出　　处：《中华神经科杂志》2008年第5期339-342,共4页Chinese Journal of Neurology

基　　金：中国博士后科学基金面上资助项目（DG220D5078）

摘　　要：目的探讨江苏汉族人群蛋白激酶Cη（PRKCH）基因1425G／A单核苷酸多态与脑梗死的关系。方法采用病例-对照的方法，选取255例脑梗死患者和225例其他疾病患者或健康体检者为对照，应用PCR扩增产物直接测序法筛查PRKCH基因1425G／A单核苷酸多态，对相关资料编码后输入SPSS13．0统计学软件进行数据分析。结果在脑梗死组中GA＋AA基因型频率（56．86％）和A等位基因频率（36．27％）明显高于对照组（44．44％和24．67％;Χ^2=7．377，P=0．007；Χ^2=15．104，P〈0．01）；对脑梗死组的不同亚型进一步分析发现，腔隙性脑梗死亚组该位点基因型（63．09％）和等位基因频率（40.27％）分布与对照组（44．44％和24．67％）相比，差异有统计学意义（Χ^2=11．744，P=0．01；Χ^2=20．445，P〈0．01）。Logistic回归分析显示，高血压、糖尿病、高血脂和A等位基因是江苏汉族人群腔隙性脑梗死的独立危险因素。结论PRKCH基因1425G／A多态可能与脑梗死发生相关，尤其是与腔隙性脑梗死的发生相关。Objective To explore the association between 1425G/A single nucleotide polymorphism （SNP） of protein kinase Cη gene （PRKCH） and cerebral infarction in Jiangsu Han population. Methods 255 patients with cerebral infarction and 225 controls were recruited in our case-control study. The 1425G/A in PRKCH gene was detected by direct sequencing of PCR products. Data were coded and entered in SPSS Windows （version 13.0）. Results The frequencies of the GA ＋ AA genotypes （ 56. 86% ） and A allele （36. 27% ） in cerebral infarct group were significantly higher than those in control group （44. 44% and 24. 67% ,Χ^2 =7. 377 ,P=0. 007 and Χ^2 = 15. 104 ,P 〈 0. 01 ）. Further analysis indicated that the genotypes （63.09%） and alleles （40. 27% ）frequencies were statistically different between lacunar infarction subtype and controls （44.44% and 24.67% ;Χ^2 = 11.744, P = 0.01 and Χ^2 = 20.445, P 〈 0.01 ） . Logistic regression analysis revealed that hypertension, diabetes mellitus, hyperlipidemia and the A allele of 1425G/A polymorphism were independent risky factors for lacunar infarction. Conclusions The SNP 1425G/A in PRKCH is closely associated with cerebral infarction, particularly with lacunar infarction.

关 键 词：脑梗塞 蛋白激酶C 多态性 单核苷酸 疾病遗传易感性 

分 类 号：R686[医药卫生—骨科学]