海南黎族人群低密度脂蛋白受体基因AvaⅡ多态性与血脂水平关系的研究

Association of AvaⅡ polymorphism between low density lipoprotein receptor gene and blood lipid in Li nationality in Hainan province

目的探讨低密度脂蛋白受体(low density lipoprotein receptor,LDL-R)基因外显子13中AvaⅡ多态性在海南黎族健康人群中的频率分布,分析其基因多态性与血脂水平的关系。方法采用分层随机抽样方法选取1 110例样本(实验组:黎族518名,对照组:汉族592名),采空腹静脉血,测血清中三酰甘油(triacylglycerol,TG)、总胆固醇(total cholesterol,TC)、高密度脂蛋白胆固醇(high density lipoprotein cholesterol,HDL-C)浓度、低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)浓度,运用多聚酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术检测LDL-R基因AvaⅡ多态性。结果黎族人群与汉族人群LDL-R AvaⅡ基因3种基因型(A-A-)、(A+A-)、(A+A+)频率[70.7%(366/518)vs.70.3%(416/592),P>0.05;24.7%(128/518)vs.27%(160/592),P>0.05;4.6%(24/518)vs.2.7%(16/592),P>0.05]无]和等位基因的频率[17.0%vs.16.2%,P>0.05;83.0%vs.83.8%,P>0.05]比较,差异无统计学意义。黎族人群LDL-R 3种基因型(A-A-)、(A+A-)、(A+A+)血脂浓度比较,只有血清TG浓度差异有统计学意义[(1.271±0.730)mmol/L vs.(1.552±1.113)mmol/L vs.(1.046±0.284)mmol/L,F=3.454,P=0.033];汉族人群3种基因型(A-A-)、(A+A-)、(A+A+)血脂浓度比较,差异无统计学意义(P>0.05)。结论黎族人群与汉族人群LDL-R基因AvaⅡ多态性及等位基因频率未发现显著差异。黎族人群AvaⅡ三种基因型(A-A-)、(A+A-)、(A+A+)的血脂浓度比较,只有TG浓度发现显著差异。

Objectives To study frequency distribution of polymorphism in exon 13 of low density lipoprotein receptor （LDL-R） gene in health people of Li nationality in Hainan province and analyze relationship between genotype and blood lipid level. Methods There were 1 110 Hainan aborigines recruited for this Stratified random cluster sampling study, which included 518 Li people and 592 Han people. Fasting blood was drawn to evaluate serum concentrations of triglyceride （TG）, cholesterol （TC）, high density lipoprotein cholesterol （HDL-C）, low density of lipoprotein cholesterol （LDL-C）. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method was used to determine Ava Ⅱ polymorphism of LDL-R gene. Results （A-A-）, （A＋A-） and （A＋A＋） genotype frequency [70.7% （366/518） vs. 70.3% （416/592）,P〉0.05; 24.7% （128/518） vs. 27% （160/592）,P〉0.05; 4.6% （24/ 518） vs. 2.7% （16/592）, P〉0.05] and allelic frequency [ 17.0% vs. 16.2%, P〉0.05; 83.0% vs. 83.8%, P〉0.05] of LDL-R gene between Li people and Han people had no significant difference. Serum concentrations of lipid among three genotypes （A-A-）, （A＋A-）, （A＋A＋） in Li people had no significant difference, except for TG [ （1.271±0.730） mmol/L vs. （ 1.552 ±1.113） mmol/L vs. （1.046±0.284） mmol/L, F=3.454, P=0.033 ]. Serum concentrations of lipid among three genotypes（A-A-）, （A＋A-）, （A＋A＋）in Han people had no significant difference （P〉0.05）. Conclusions Ava 11 polymorphism of LDL-R gene between Li and Han group is basically identical. Only serum concentration of triglyeeride has difference among （A-A-）, （A＋A-）, （A＋A＋）three genotypes of Ava I1 gene in Li people.