ABCA1基因启动子区-477C/T单核苷酸多态性在中国汉族正常人群中的分布及对血脂的影响

南方医科大学学报 ›› 2004, Vol. 24 ›› Issue (06): 650-652.

ABCA1基因启动子区-477C/T单核苷酸多态性在中国汉族正常人群中的分布及对血脂的影响

刘胜林, 郭志刚, 赖文岩, 屠燕, 陈建庭

第一军医大学南方医院心内科, 广东, 广州, 510515

出版日期:2004-06-20 发布日期:2004-06-20
基金资助:
收稿日期:2003-12-15。
基金项目:国家自然科学基金(30171028);广东省自然科学基金(010616)
作者简介:刘胜林(1964- ),男,第一军医大学在读硕士研究生,主治医师,讲师.
通讯作者:郭志刚,E-mail:guodotor@hotmail.com.

Distribution of-477C/T single nucleotide polymorphism in the promoter region of ABCA1gene and its significance for plasma lipids levels in normal Chinese Han population

LIU Sheng-lin, GUO Zhi-gang, LAI Wen-yan, TU Yan, CHEN Jian-ting

第一军医大学南方医院心内科, 广东, 广州, 510515

Online:2004-06-20 Published:2004-06-20

摘要/Abstract

摘要： 目的研究ATP结合盒转运子A1(ABCA1)基因启动子区-477C/T单核苷酸多态性(SNP)在中国汉族正常人群中的分布及其对血脂的影响。方法用聚合酶链反应-限制性酶切片段长度多态性分析法(PCR-RFLP)检测113例中国汉族正常人ABCA1基因启动子区-477C/T SNP三种基因型在正常人群中的分布及其与临床指标的关系。结果 ABCA1基因启动子区-477C/T SNP存在于中国汉族正常人群中;其基因型分布为:CC基因型37.2%(42例),CT基因型46.9%(53例),TT基因型15.9%(18例)。三种基因型间比较,TT基因型血高密度脂蛋白水平明显低于CC基因型(P<0.05),而总胆固醇、甘油三脂、低密度脂蛋白、极低密度脂蛋白、体重指数等指标在三种基因型间差异无显著性(P>0.05)。结论在中国汉族正常人群中,TT基因型可明显影响血浆高密度脂蛋白水平。

Abstract: Objective To investigate the distribution of -477C/T single nucleotide polymorphisms (SNP) in the promoter region of ATP binding cassette transporter (ABCA1) gene and its relation to plasma lipid levels in normal Chinese Han population. Methods The three genotypes of -477C/T polymorphisms in the promoter region of the ABCA1 gene were detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 113 normal Chinese Han subjects. Results -477C/T SNP was present in normal Chinese Han population, and 37.2% (42) of the examined subjects belonged to the genotype of CC, 46.9% (53) belonged to CT and 15.9% (18) to TT. The individuals with the TT genotype had a lower plasma high-density lipoprotein cholesterol (HDL-C) level than those with the CC genotype (P<0.05). No association was found between the genotypes and plasma levels of total cholesterol, triglyceride, low-density lipoprotein, very low-density lipoprotein and body mass index. Conclusion The TT genotype significantly influences the plasma levels of HDL-C in normal Chinese Han individuals.

中图分类号:

刘胜林, 郭志刚, 赖文岩, 屠燕, 陈建庭. ABCA1基因启动子区-477C/T单核苷酸多态性在中国汉族正常人群中的分布及对血脂的影响[J]. 南方医科大学学报, 2004, 24(06): 650-652.

LIU Sheng-lin, GUO Zhi-gang, LAI Wen-yan, TU Yan, CHEN Jian-ting. Distribution of-477C/T single nucleotide polymorphism in the promoter region of ABCA1gene and its significance for plasma lipids levels in normal Chinese Han population[J]. Journal of Southern Medical University, 2004, 24(06): 650-652.

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