Mitchell R J, Earl L, Williams J, Bisucci T, Gasiamis H
Department of Genetics and Human Variation, la Trobe University, Melbourne, Victoria, Australia.
Hum Biol. 1994 Feb;66(1):13-25.
The relation between TaqI restriction fragment length polymorphisms (RFLPs) of the cholesteryl ester transfer protein (CETP) gene and plasma lipid and lipoprotein phenotypes was investigated in a sample of Italian and Greek migrants of both sexes, age 40-69 years. Italians display significantly higher mean triglyceride and lower mean high-density lipoprotein (HDL) cholesterol levels than Greeks. Greek females have significantly higher HDL cholesterol than Greek males, and Italian females have significantly higher low-density lipoprotein (LDL), HDL, and total cholesterol than Italian males. The differences in RFLP allele frequencies between the two ethnic groups and sexes are insignificant. Multivariate analyses show that in the Greek sample the TaqI B RFLP of the CETP gene has a highly significant effect on HDL cholesterol levels regardless of sex and that the TaqI A polymorphism has a significant effect on HDL levels in females but modulates LDL cholesterol concentrations in males. Among Italians, with the sexes considered separately or combined, no such effects of the CETP TaqI polymorphisms are detected. Kruskal-Wallis tests detected associations between the TaqI B polymorphism in all Greek samples but not in the Italian samples. Genotype CETP*B2 exhibits significantly higher HDL cholesterol concentrations than either of the other two TaqI B genotypes, but there is no evidence of a dosage effect of the *B2 allele. These data suggest that associations between the CETP gene and lipid phenotypes can be population specific. Further, they suggest that such associations are mediated in some way by gender.
在年龄为40 - 69岁的意大利和希腊男女移民样本中,研究了胆固醇酯转运蛋白(CETP)基因的TaqI限制性片段长度多态性(RFLP)与血浆脂质和脂蛋白表型之间的关系。意大利人的平均甘油三酯水平显著高于希腊人,而平均高密度脂蛋白(HDL)胆固醇水平则低于希腊人。希腊女性的HDL胆固醇水平显著高于希腊男性,意大利女性的低密度脂蛋白(LDL)、HDL和总胆固醇水平显著高于意大利男性。两个种族群体和性别之间RFLP等位基因频率的差异不显著。多变量分析表明,在希腊样本中,无论性别如何,CETP基因的TaqI B RFLP对HDL胆固醇水平都有高度显著的影响,并且TaqI A多态性对女性的HDL水平有显著影响,但对男性的LDL胆固醇浓度有调节作用。在意大利人中,无论男女分开考虑还是合并考虑,均未检测到CETP TaqI多态性的此类影响。Kruskal - Wallis检验在所有希腊样本中检测到TaqI B多态性之间的关联,但在意大利样本中未检测到。基因型CETPB2的HDL胆固醇浓度显著高于其他两种TaqI B基因型中的任何一种,但没有证据表明B2等位基因存在剂量效应。这些数据表明,CETP基因与脂质表型之间的关联可能具有人群特异性。此外,它们表明这种关联在某种程度上是由性别介导的。