β2-肾上腺素能受体基因+491C＞T多态性与新疆哈萨克族人血脂的关系

摘要

目的 研究β2-肾上腺素能受体基因(ADRB2)+491C＞T多态性在新疆哈萨克族人群中的分布及其与甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白(HDL-C)、低密度脂蛋白(LDL-C)的关系.方法 采用横断面调查方法采集528例30～60岁哈萨克族人的血样,采用酚/氯仿法提取外周血白细胞DNA,应用PCR-RFLP技术,检测ADRB2+491C＞T基因型,分析基因型及等位基因在该人群中的分布频率及其与TG、TC、HDL-C、LDL-C水平的关系.结果 该人群ADRB2+491C＞T位点检测出两种基因型CC、CT,分布频率为98.86%、1.14%,等位基因C、T频率为99.43%、0.57%,符合Hardy-Weinberg平衡(χ2=0.017,P=0.896).CT基因型组的TC、LDL-C水平较CC基因型组增高,但差异无统计学意义,但携带CT基因型的女性血清LDL-C水平明显高于CC基因型,差异有统计学意义(P=0.038);按1997年WHO血脂防治建议标准分组后,CT基因型、T等位基因在高LDL-C组和正常LDL-C组间分布的差异有统计学意义(P=0.031).结论 新疆哈萨克人群存在ADRB2+491C＞T多态性,该人群尤其是女性中CT基因型血清LDL-C水平明显增高,CT基因型、T等位基因是高LDL-C的易感因素,提示该多态性可能与哈萨克人群尤其是女性的高LDL-C相关.%Objective To investigate the distribution of β2-AR+491C＞T polymorphism in Hazakh of Xinjiang and the relationships with triglycerid(TG),total cholesterol(TC),high density lipoprotein-cholesterol(HDL-C)and low density lipoprotein-cholesterol(LDL-C)levels in this population.Methods In this cmss-sectional study,we recruited 532 Hazakh subjects(30～60 years old)from the pastoral areas in Xinjiang.Peripheral blood was collected fronl all recruited subjects.The DNA was extracted by a standard phenolchloroform method.Then the genotypes of β2-AR was identified by PCR-restriction fragment length polymorphism in all subjects,and the relationships between the polymorphism with the levels of TG,TC,HDL-C and LDL-C were studied.Results In this population,the frequencies of the genotype CC,CT were 98.86% and 1.14%,respectively,no TT was found.The genotype and allele frequencies were in Hardy-Weinberg equilibrium(x2=0.017,P=0.896).The levels of TG,TC,HDL,LDL were increased in CT,but no significant difference was found between these two genotypes in this population.The TC genotype had higher LDL-C level than TT genotvpe in female,and the difference was significant(P=0.038),but according to the standard announced by WHO,genotype CT and T allele were associated with high LDL-C(P=0.031). Conclusion These data sugges that the+491C＞T genotype of β2-AR gene is associated with higher LDL-C level in this population,especially in female,which sugges that it may play an imporlant role in abnormal LDL-C in fenmle Hazakh of Xinjiang.