脂蛋白脂酶PvuⅡ和胆固醇酯转运蛋白TaqIB基因多态性与新疆哈萨克族高脂血症的关系

The Relationship between LPL, CETP gene polymorphism and hyperlipidemia in Xinjiang Kazaka People

目的:了解脂蛋白脂酶(LPL)PvuⅡ和胆固醇酯转运蛋白(CETP)TaqIB基因多态性与新疆博尔塔拉州哈萨克族高脂血症的关系。方法:对新疆博州647名≥30岁哈萨克族人群进行血脂谱水平测定及LPL-PvuⅡ和CETP-TaqIB位点多态性检测(PCR-RFLPs方法)。结果:(1)LPL基因P+和P-等位基因的频率为38．1％和61．9％,与欧美的研究结果相似;CETP-TaqIB基因B1、B2等位基因频率为54．25％和45．75％,与欧美白种人、黄种人均相近。(2)高脂血症组与血脂正常组LPL、CETP基因型构成差异无显著性;单纯高甘油三酯血症组的LPL的P+P+基因型较对照组升高。(3)LPL基因P-P-基因型的TG低,CETP基因TaqIB位点B1B1、B1B2、B2B2的HDL-C呈上升趋势。(4)同时有CETP B1B1和LPL P+P+基因型时,血浆TG水平明显升高;同时有CETP B2B2和LPL P-P-基因型时。血浆HDL-C水平明显升高。结论:LPL-PvuⅡ和CETP-TaqIB位点多态性与新疆博州哈萨克族人群的高脂血症可能有关,P+P+与高TG有关,B2B2与高HDL-C有关。

Objective： To examine the relationship between LPL, CETP gene polymorphism and hyperhpidemia in a 647 Kazaka population in the Bortala Prefecture of Xinjiang.Methods： The levels of serum lipid,including TC,TG,HDL - C,LDL - C were analyzed. The polymorphism of LPL, CETP gene were detected by PCR - RFLPs method. Results： （1） The P ＋ , P - allele frequencies of LPL gene were 38.1%, 61.9%, and similar to that of Caucasian; B 1, B2 allele frequencies of CETP gene were 54.25 %, 45.75 %, and similar to that of Caucasian, and yellow race. （2） There was no significant difference in the distribution of genotypes between the hyperhpidemia and the normalipidemia. The genotype frequencies of P ＋ P ＋ was increased in hypertriglyceridemia. （3） Subjects for the LPL P - P - genotype had lower TG than did P ＋ P ＋ and P ＋ P - subjects, subjects for the CETP B2B2 genotype had higher HDL - C than did B1B1 and B1B2 subjects. （4） Subjects for both LPL P ＋ P ＋ and CETP B1B1 genotype had high TG, subjects for both LPL P - P - and CETP B2B2 genotype had high HDL - C. Conclusion： LPL and CETP gene polymorphism are possible associated with hyperlipidemia in the Xinjiang Kazaka people. LPL P ＋ P ＋ genotype is related with high TG, CETP B2B2 is related with high HDL - C.