胆固醇酯转运蛋白变异体Ile405Val在欧亚人群中的频率及其对血脂代谢影响的比较研究

采用基因特异性引物通过致突变分离聚合酶链反应（ ＭＳＰＣＲ） 技术一步法检测胆固醇酯转运蛋白（ ＣＥＴＰ） 第４０５ 位异亮氨酸（Ｉｌｅ） 和缬氨酸（ Ｖａｌ） 等位基因，从而对欧洲的德意志和意大利及亚洲的日本正常人群中ＣＥＴＰ 变异体Ｉｌｅ４０５ Ｖａｌ 基因型和表现型及其相互关系进行了对比研究。结果表明该ＣＥＴＰ 基因变异体在德意志、意大利和日本人群中出现频率显著不同（０ ．３０ ｖｓ ０ ．４０ ｖｓ０ ．５１ ，Ｐ＜ ０ ．０１） ，但均与血清高密度脂蛋白胆固醇（ ＨＤＬＣ） 的升高和甘油三酯（ ＴＧ） 的降低密切相关，前者在德意志和意大利正常人群中十分显著（ Ｐ＜ ０ ．０１） ，后者在日本人群中极为明显（ Ｐ＜ ０ ．０５） 。本研究提示欧亚不同人群ＣＥＴＰ４０５Ｖａｌ 等位基因频率的差异可能是其血清ＨＤＬＣ 水平差异的原因之一

A COMPARATIVE STUDY ON THE ALLELE FREQUENCIES OF GENETIC VARIANT Ile405Val OF CHOLESTERYL ESTER TRANSFER PROTEIN AND ITS INFLUENCE ON SERUM LIPIDS IN EUROPEAN AND ASIAN POPULATIONS

Objective:To carry out a comparative study on the mutual relationshipbetween the genotype and phenotype of the gentic variant of cholesteryl ester transfer protein(CETP) gene in German,Italian and Japanese populations.Methods:Special gene primers,the technique of mutagenically-separated polymerase chain reaction(MS-PCR) and one step method were used to detect the isoleucine(Ile) and valine(Val) alleles of the CETP gene in codon 405.Results:The mutant CETP-405-Val allele frequencies in German,Italian and Japanese populations were significantly different(0.30 vs 0.40 vs 0.51,p<0.01).However, in all three different populations this mutant allele was closely correlated with the increase of serum high-density lipoprotein-cholesterol(HDL-C) and the decrease of triglyceride(TG).The former was statistically different between German and Italian(P<0.01),and the latter was especially evident in Japanese individuals(P<0.05).Conclusions:The results suggest that the difference of CETP-405-Val allele frequencies between Europeans and Asians may be one of the probable genetic factors contributing to the race-based difference in HDL-C levels.