中国青岛地区汉族人群脂蛋白脂肪酶基因Ser447Stop多态性与冠状动脉粥样硬化性心脏病的关联

Relationship between Ser447Stop polymorphism of lipoprotein lipase gene and coronary atherosclerotic heart disease in Chinese Han population of Qingdao region

目的:分析中国青岛地区汉族人群中脂蛋白脂肪酶基因Ser447Stop多态性与冠状动脉粥样硬化性心脏病(简称冠心病)的相关性。方法:选择2004-01/2005-06在青岛大学医学院第二附属医院的住院冠心病患者96例,其中男50例,女46例;血脂正常44例,血脂异常(三酰甘油高或高密度脂蛋白胆固醇低)52例。应用聚合酶链反应和限制性片段长度多态性分析的方法测定脂蛋白脂肪酶基因Ser447Stop多态性。以90例同期体检健康者为对照组。结果:186例受试者全部进入结果分析。①冠心病组的CG+GG基因型频率和G等位基因频率均显著低于对照组(17.8%,42.2%,P<0.05;0.089,0.217,P<0.05)。②男性冠心病组的CG+GG基因型频率和G等位基因频率均显著低于男性对照组(18.0%,41.7%,P<0.05;0.090,0.208,P<0.05);女性冠心病组的CG+GG基因型频率和G等位基因频率也显著低于女性对照组(17.4%,40.7%,P<0.05;0.087,0.298,P<0.05)。结论:中国青岛汉族人群中脂蛋白脂肪酶基因Ser447STOP多态性与冠心病有一定的相关性,G等位基因可能是冠心病的一个保护性因素。

AIM： To analyze the relationship between the Serd-d-7Stop polymorphism of lipoprotein lipase （LPL） and coronary atherosclerotic heart disease （CAHD） in Chinese Han population of Qingdao region. METHODS： Totally 96 CAHD patients were selected from the Second Affiliated Hospital of Medical College of Qingdao University from January 2004 to June 2005, of which there were 50 males and 46 females, 44 cases of normal blood lipid and 52 cases of abnormal blood lipid （high triacylglycerol or low high density lipoprotein cholesterol）. Ser447Stop polymorphism of LPL gene was analyzed with polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. And 90 healthy persons were enrolled as control group at the same time. RESULTS： A total of 186 testees were involved in the result analysis. （1） CG＋GG genotype frequencies and G allele gene frequency in the CAHD group were significantly lower than those in the control group （17.8%, 42.2% ,P 〈 0.05 ;0.089, 0.217 ,P 〈 0.05）. （2）CG＋GG genotype frequencies and G allele gene frequency in the male CAHD group were significantly lower than those in the male control group （18.0% ,41.7% ,P 〈 0.05 ;0.090, 0.208,P 〈 0.05）; CG ＋GG genotype frequencies and G allele gene frequency in the female CAHD group were also significantly lower than those in the female control group （17.4% ,40.7% ,P 〈 0.05 ;0.087,0.298,P 〈 0.05）. CONCLUSION： The Ser447STOP polymorphism of the LPL gene is implicated in the pathogenesis of CAHD in Chinese Han population of Qingdao region. The allele G maybe plays a protective effect in the development of CAHD.