中老年人胆固醇酯转运蛋白基因多态性与高脂血症的关系

Relationship between gene polymorphism at CETP locus and hyperlipidemia in the middle-aged and the elder

目的 了解胆固醇酯转运蛋白 (CETP)基因多态性与中老年人高脂血症的关系。方法 对北京市西城区 4 2 1名 35岁～ 81岁中老年人进行血脂谱水平测定及胆固醇酯转运蛋白基因TaqIB(CETP TaqIB)位点多态性检测 (PCR RFLP方法 )。结果 CETP基因TaqIB位点B1B1、B1B2、B2B2基因型频率分别为 30 4 %、5 2 0 %、17 6 % ,其等位基因B1、B2频率分别为5 6 4 %、4 3 6 % ,与欧美白种人、日本人、中国台湾汉族人等相近 ;高脂血症组与血脂正常组CETP TaqIB位点基因型构成差异无显著性 ;B1B1、B1B2、B2B2基因型的HDL C水平呈上升趋势 ,但差异无显著性 ,且不同基因型的TC、TG、LDL C、ApoAI、ApoB水平差异无显著性 ,分性别分析结果相同。分析其原因可能有 :(1)遗传变异是多位点、多种类的 ,在不同种族、不同人群中的表现不同 ;(2 )单个基因的作用“微效” ;(3)混杂因素的影响。结论 尚不能证实CETP基因TaqIB位点多态性与北京市西城区中老年人高脂血症有关。

Objective The relationship between gene polymorphism at CETP locus and hyperlipidemia was examined in a 421 population-based sample (age from 35 to 81 )from Xicheng district,Beijing. Methods The levels of serum lipid profile, including TC、TG、HDL-C、LDL-C、ApoAI、ApoB were analyzed. The polymorphism of CETP gene were detected by PCR-RFLP method. Results The genotype frequencies of CETP-TaqIB B1B1,B1B2,B2B2 were 30.4%,52.0%,17.6% respectively,and the B1,B2 allele frequencies were 56.4%,43.6%,and similar to that of Caucasian, Japanese and Taiwan Residents Chinese. There was no significant difference in the distribution of genotypes between the hyperlipidemia and the normalipidemia. Subjects for the B1B1 genotype had lower HDL-C levels than did B1B2 and B2B2 subjects, but the difference did not reach statistically significant. And there were no statistically significant differences among the genotype groups in the other plasma lipid levels. Several factors may be associated with the negative results:(1)The genetic variation was multiple,polynormal and different among various ethnic population.(2)One gene locus always was “minor gene'.(3)Confounding factors.Conclusion The study could not draw the conclusion that the polymorphism at CETP locus was associated with hyperlipidemia in the middle-aged and the elder in Beijing.