Gudnason V, Thormar K, Humphries S E
Department of Medicine, University College London Medical School, Rayne Institute, UK.
Clin Genet. 1997 Jan;51(1):15-21. doi: 10.1111/j.1399-0004.1997.tb02407.x.
Three hundred and sixteen healthy Icelandic men and women were examined for the effect of the cholesteryl ester transfer protein (CETP) I405V polymorphism on plasma triglycerides, HDL cholesterol (HDLC) and apoAI concentration. Genotyping was performed using an allele specific oligomelting assay and the frequency of the V allele was 0.31 (95 CI for men 0.23-0.33 and for women 0.29-0.39). In women no significant difference was associated with the V405 genotype for any plasma lipid trait. However, men who were homozygous for the V405 allele had 9% higher apoAI and 14% higher HDLC levels (p < 0.05) than those homozygous for the common I405 allele. The genotype effect was seen only in the non-smokers (p = 0.07 and < 0.05, respectively), and in those consuming alcohol (p < 0.05 for both). Analysis of interaction between the environmental, life-style factors and genotype in men for the traits of HDLC and apoAI showed statistically significant interaction of the genotype only with alcohol consumption. The non-smoking men who reported alcohol consumption and who were homozygous for the CETP V405 allele had 16% higher plasma apoAI concentration than those who carried the I405 allele, and up to 20% higher apoAI level than smokers. On the basis of prospective studies carried out on the Icelandic population, non-smoking, alcohol-consuming men who are homozygous for the V405 allele could have from 32% to 40% lower risk of having a heart attack.
对316名冰岛健康男女进行了研究,以考察胆固醇酯转运蛋白(CETP)I405V多态性对血浆甘油三酯、高密度脂蛋白胆固醇(HDLC)和载脂蛋白AI浓度的影响。采用等位基因特异性寡聚熔解分析法进行基因分型,V等位基因的频率为0.31(男性95%置信区间为0.23 - 0.33,女性为0.29 - 0.39)。在女性中,V405基因型与任何血浆脂质性状均无显著差异。然而,V405等位基因纯合的男性比常见I405等位基因纯合的男性载脂蛋白AI水平高9%,HDLC水平高14%(p < 0.05)。基因型效应仅在不吸烟者中可见(分别为p = 0.07和< 0.05),以及在饮酒者中可见(两者p均< 0.05)。对男性HDLC和载脂蛋白AI性状的环境、生活方式因素与基因型之间的相互作用分析表明,基因型仅与饮酒存在统计学上的显著相互作用。报告饮酒且为CETP V405等位基因纯合的不吸烟男性,其血浆载脂蛋白AI浓度比携带I405等位基因的男性高16%,比吸烟者高20%。基于对冰岛人群进行的前瞻性研究,V405等位基因纯合的不吸烟、饮酒男性患心脏病的风险可能降低32%至40%。