302例海南黎族LDLR基因PvuⅡ多态性与血脂水平关系的研究

Research on association between PvuⅡ polymorphism of LDLR gene and blood lipid level among 302 Li people in Hainan province

目的探讨海南地区黎族人群低密度脂蛋白受体(LDLR)基因PvuⅡ位点的多态性及其对血脂及载脂蛋白的影响。方法采用分层随机整群抽样方法选取694例样本(观察组:黎族302例,对照组:汉族392例),抽取空腹静脉血检测血脂水平,运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测LDLR基因PvuⅡ多态性。结果观察组与对照组LDLR基因PvuⅡ3种基因型P1P1、P1P2、P2P2频率(66.89%vs.76.53%、27.81%vs.20.41%、5.30%vs.3.06%)比较,差异有统计学意义(P<0.05);观察组等位基因P2频率19.20%显著高于对照组13.26%(P<0.01)。观察组脂蛋白(a)[Lp(a)]、载脂蛋白B(apoB)水平显著低于对照组(P<0.01),观察组高密度脂蛋白胆固醇(HDL-C)、载脂蛋白AI(apoAI)水平和apoAI/apoB比值显著高于对照组(P<0.01)。两组对象LDLR基因PvuⅡ各基因型与临床血脂水平指标[总胆固醇(TC)、三酰甘油(TG)、HDL-C、低密度脂蛋白胆固醇(LDL-C)、apoAI、apoB、Lp(a)]差异无统计学意义(P>0.05)。结论海南黎族人群LDLR基因存在PvuⅡ多态性,LDLR基因PvuⅡ多态性与血脂各项指标水平无相关性,P2等位基因不影响血脂代谢。

Objective To study the PvuⅡlocus polymorphism of low density lipoprotein receptor（LDLR）gene among the Li people in Hainan area,and to evaluate its impact on serum apolipoproteins and blood lipids.Methods 694samples（observation group：302cases of Li people,the control group：392cases of Han people）were selected by using the stratified random cluster sampling method.Fasting venous blood was collected for detecting serum lipid level,the polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）method was employed to detect PvuⅡpolymorphism in LDLR gene.Results The frequencies of genotype P1P1,P1P2 and P2P2of LDLR gene PvuⅡin the observation group and the control group were 66.89% vs.76.53%,27.81%vs.20.41%,5.30%vs.3.06%respectively,the differences were statistically significant（P〈0.05）;the frequency of allele P2 in the observation group was significantly higher than that in the control group（19.20%vs.13.26%,P〈0.01）.The Lp（a）and apoB levels in the observation group were significantly lower than those in the control group（P〈0.01）.However,the HDL-C,apoAI levels and apoAI/apoB ratio in the observation group were significantly higher than those in the control group（P〈0.01）.The various genotypes of LDLRgene PvuⅡand clinical blood lipid levels[such as TC,TG,HDL-C,LDL-C,apoAI,apoB,Lp（a）]had no statistical differences between the two groups（P〉0.05）.Conclusion PvuⅡ polymorphism exists in LDLR gene among Li people in Hainan area.The LDLR gene PvuⅡ polymorphism has no correlation with the levels of various blood lipid indicators.P2 allele does not affect the lipid metabolism.