瘦素基因启动子区G-2548A多态性与脑梗死和腹型肥胖关系

目的探讨中国青岛地区汉族人群瘦素基因启动子区G-2548A多态性与腹型肥胖和脑梗死的关系。方法采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）的方法,对216例脑梗死病人和182例健康者（对照组）的瘦素基因启动子区G-2548A位点进行多态性分析;根据腹围将两组均分为腹型肥胖组和非腹型肥胖组。结果所有受检者的基因型频率分布符合Hardy-Weinberg平衡。脑梗死组GG基因型频率显著高于对照组（χ2=62.574,P〈0.001）,G等位基因频率显著高于对照组（χ2=29.173,P〈0.001）。GG基因型人群患脑梗死的风险是GA＋AA基因型的2.494倍（OR=2.494,95%CI=1.344-4.631）,GG基因型人群空腹血浆瘦素水平高于GA＋AA基因型（t=6.924,P〈0.001）。腹型肥胖者的基因型分布和等位基因频率与非腹型肥胖者相比差异无显著性（P〉0.05）。结论瘦素基因启动子区G-2548A多态性可能与脑梗死的易感性有关,G等位基因可能是脑梗死的遗传易感因素,瘦素基因启动子区G-2548A的多态性与腹型肥胖无相关性。

RELATIONSHIP BETWEEN LEPTIN GENE POLYMORPHISMS G-2548A AND BOTH ABDOMINAL OBESITY AND CEREBRAL INFARCTION

Objective To investigate the association between G-2548 Apolymorphism in leptin gene and abdominal obesity and cerebral infarction（CI）in Chinese Han population in Qingdao area. Methods Employing polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）,apolymorphism analysis was conducted for G-2548 Ain 216CI patients and182 healthy controls.They were divided into abdominal obesity and non-abdominal obesity according to their abdominal circumference. Results Distributions of genotypes were consistent with Hardy-Weinberg equilibrium in both CI and control groups.The frequency of genotype with GG in the CI group was significantly higher than the control group（χ2=62.574,P〈0.001）,the allele frequencies with G in the CI group were significantly higher than the control group（χ2=29.173,P〈0.001）.The relative risk suffering from CI with genotype GG was 2.494 times more than those with genotype GA＋AA（OR=2.494,95%CI=1.344-4.631）,Individuals with GG genotype showed higher level of leptin than those with genotype GA＋AA（t=6.924,P〈0.001）.There was no obvious difference of genotype frequency between abdominal obesity and non-abdominal obesity（P〉0.05）. Conclusion Leptin gene G-2548 Apolymorphism is probably associated with affectability of cerebral infarction,and G allele may be a genetic predisposing factor of this disease.There is no correlation between G-2548 Apolymorphism and abdominal obesity.