APOA5基因单核苷酸多态性与冠心病相关性研究  

Association of APOA5 gene single nucleotide polymorphism with levels of lipids and coronary heart disease in Chinese

作　　者：刘合焜[1] 王春婷[2] 张思仲[1] 肖翠英[1] 李雪飞[2] 张克兰[1] 张立[3] 苏智广[1] 马用信[1] 周斌[1] 郑克勤[1] 李贵星[4] 

机构地区：[1]四川大学华西医院医学遗传研究室,成都610041 [2]福建医科大学细胞生物学与遗传学系 [3]四川大学华西医院心内科,成都610041 [4]四川大学华西医院实验医学科,成都610041

出　　处：《中华医学遗传学杂志》2004年第4期335-338,共4页Chinese Journal of Medical Genetics

基　　金：国家高技术"863"计划资助项目 (2 0 0 1AA2 2 4 0 2 1 0 3) ;国家科技攻关计划子课题 (2 0 0 2BA71 1A0 8)~~

摘　　要：目的　探讨APOA5基因多态性与冠状动脉粥样硬化性心脏病 (coronaryheartdisease ,CHD)的相关性、与血脂关系及其在中国汉族人群中的分布。方法　用聚合酶链反应 限制性片段长度多态性分析APOA5与APOA4交界区域的T/C单核苷酸多态。结果　T/C单核苷酸多态位点等位基因T、C频率在CHD组和正常对照组分别为 0 .43 5、0 .5 65和 0 .3 74、0 .62 6。等位基因频率和基因型频率分布均符合Hardy Weinberg平衡定律。T/C基因多态性基因型频率 ,等位基因T、C频率在两组间差异有显著性(P <0 .0 5 ) ,且基因型CC的冠心病患者其血浆高密度脂蛋白水平显著高于其他基因型患者 (P <0 .0 1)。中国人T/C单核苷酸多态位点T、C等位基因频率与欧洲白人比较 ,差异存在非常显著性 ( 0 .3 74vs 0 .663、0 62 6vs 0 .3 3 7;P <0 .0 0 1)。结论　T/C单核苷酸多态性与CHD存在相关性 (P <0 .0 5 ) ,患者组CC基因型与血浆高密度脂蛋白水平密切相关 (P <0 .0 1)。Objective To investigate the single nucleotide polymorphism 4 (SNP4) of the apolipoprotein A5 ( APOA5) gene possible association with coronary heart disease(CHD) and its distribution of in Chinese Han population. Methods APOA5 SNP4 genotyping was performed using polymerase chain reaction and HaeⅢ restriction fragment length polymorphism analysis. Results APOA5 allelic frequencies of T,C were 0.435, 0.565 and 0.374,0.626 in CHD group and control group, respectively. There is significant difference in allele and genotype frequencies between CHD group and control group (P<0.05). The levels of plasma high density lipoprotein in CHD patients with CC genotype were higher than those in CHD patients with other genotypes (P<0.01). The frequencies of T allele and C allele in Chinese was significantly different from those in Caucasians (0.374 vs 0.663, 0.626 vs 0.337, P<0.01). The C allele was much more common in Chinese population. Conclusion The association is found between the HaeⅢ polymorphism and CHD, There is a significant correlation between the CC genotype of the APOA5 and the levels of plasma high density lipoprotein-cholosteal in the CHD group.

关 键 词：CHD 单核苷酸多态性 冠心病 高密度脂蛋白 相关性研究 血浆 等位基因频率 单核苷酸多态位点 中国汉族人群 水平 

分 类 号：R541.4[医药卫生—心血管疾病] Q987[医药卫生—内科学]