饮酒和载脂蛋白AI基因启动子G/A置换多态性对凉山彝汉人血浆载脂蛋白AI水平的影响  

The Combined effect of alcohol and G/A Substitution at -75bp Promoter Region of Apolipoprotein Al gene on Plasma Apolipoprotein Al level in Yi and Han Inhabitants

作　　者：赵庆伟[1,2] 申萍[1,2] 张华[1,2] 周梦玲 佘铭鹏[1,2] 

机构地区：[1]中国医学科学院基础医学研究所 [2]中国协和医科大学基础医学院病理室,北京100005

出　　处：《基础医学与临床》2000年第2期74-77,共4页Basic and Clinical Medicine

基　　金：国家攀登计划基金!(1997-2001);中国医学科学院基金!(1996)

摘　　要：研究载脂蛋白ＡＩ启动子－７５ｂｐ处Ｇ／Ａ嘌呤置换以及饮酒对凉山彝族及汉族人群血浆载脂蛋白ＡＩ水平 的影响。经现场调查随机抽样７４２名凉山州彝汉健康居民，包括三个人群样本：彝族农民、彝族移民、汉族居 民。根据饮用酒精量将各人群分为四组：不饮酒者、 １～２５ｇ／ｄ饮酒者、 ２６～７５ｇ／ｄ以上饮酒者、 ７５ｇ／ｄ以上饮酒 者。采集清晨空腹血样１０ｍＬ／人。全项血脂和脂蛋白水平测定。从冷冻血凝块中抽提基因组ＤＮＡ，经ＰＣＲ扩 增，进行片段长度多态性分析。结果：随着饮酒量的增加，血浆ＨＤＬＣ和ａｐｏＡＩ水平逐渐升高，在彝族农民 样本和汉民样本中有非常显著的统计学意义。三人群样本间的Ａ等位基因频率相似。Ａ等位基因携带者与ＧＧ 基因型携带者之间的各项血脂水平无显著差异。但在不饮酒者中，Ａ等位基因携带者的ａｐｏＡＩ水平明显高于 ＧＧ基因型携带者；而饮酒者中，Ａ等位基因携带者的ａｐｏＡＩ和ＨＤＬＣ水平明显低于ＧＧ基因型携带者，上述 差异在城镇人群中显示出统计学意义（Ｐ＜０．０５）。不饮酒者中，Ｇ／Ａ置换可以解释１８％的个体间ａｐｏＡＩ水平变 异（Ｆ＝８．９４，Ｐ＜０．０１）。结论；适量饮酒和ａｐｏＡＩ基因－７５处Ｇ／Ａ置换多态性均可使?To study the influence of alcohol and a common polymorphism in the human apolipoprotein A1 gene promoter locating at 75bp upstream of the transcription starting site on the plasma lipid level. 742 healthy Yi and Han subjects all above 15 years old formed the total population which was divided into three groups, namely, Yi-farmer sample, Yi-emigrant sample and Han-resident sample for this study. All estimations of plasma lipids and apolipoproteins were carried on through an auto-analyzer. Genetic DNA was extracted from the blood clot using Triton X-100 lysis technique. Amplification of a 432bp fragment of the apoA1 gene promoter was performed via PCR, followed by restriction digestion, electrophoresis and identification of the genotypes involved. Results: Four groups of alcohol consumption were defined: non-drinkers, l-25g/day, 26-75g/day and >75g/day. Plasma HDLC and apoAl levels became elevated as the alcohol consumption increased with no evidence of threshold effect found in the samples of Yi-farmers and Han people. Similar association was found in the sample of Yi-emigrams, but without statistical significance. The frequencies of the A allele of three groups of samples were similar, and no significant difference found in lipid and apolipoprotein levels between the subjects with or without A allele. However, in the Han and Yi-emigrant samples, drinkers with genotypes of GG had a higher plasma HDLC and apoAI level than that of the non-drinkers with the same genotypes, and the drinkers with A allele had a lower plasma HDLC and apoAl levels than in the drinkers without A allele. The non-drinkers with A allele had a higher level of apoAl than that of the nondrinkers with a genotype of GG. It is estimated that 18 % of the variability of plasma apoAl level could be explained by the G/A polpmorphism in non-drinkers of yi-emigrants(F=8.94, p<0.01 ). Conclusion: It's considered that a moderate alcohol consumption and the G to A substitution could reduce the risk of CHD development, but the beneficial effect of G to A s

关 键 词：酒精 载脂蛋白AI 启动子 多态性 彝族 汉族 

分 类 号：R363[医药卫生—病理学]