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  

The Relaiionship Between the ＋ 491C〉 T Polymorphism of β2-adrenergic Receptor Gene and Lipid level in Hazakh of Xinjiang

作　　者：李南方[1,2] 王红梅[1,2] 周玲[1,2] 李涛[1,2] 胡君丽[1,2] 刘辉[1,2] 

机构地区：[1]新疆自治区人民医院高血压科,乌鲁木齐 830001 [2]疆维吾尔自治区高血压研究所,乌鲁木齐 830001

出　　处：《国际遗传学杂志》2008年第2期84-87,98,共5页International Journal of Genetics

基　　金：基金项目：国家自然科学基金资助课题（30260038）;新疆自治区科技攻关和重点科技项目（200633129）（3）

摘　　要：目的研究β2-肾上腺素能受体基因（ADRIT2）＋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ADRIT2＋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ADRIT2＋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（X^2：0．017，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ADRIT2＋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 cross-sectional study, we recruited 532 Hazakh subjects （30 -60 years old） from the pastoral areas in Xin- jiang. Peripheral blood was collected from all recruited subjects. The DNA was extracted by a standard phenol- chloroform 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 （X^2 = 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 genotype in female, and the difference was significant（P =0. 038）, but according to the standard an- nounced 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 important role in abnormal LDL-C in female Hazakh of Xinjiang.

关 键 词：Β2-肾上腺素能受体基因 +491C〉T多态性 哈萨克族 血脂 

分 类 号：R544.1[医药卫生—心血管疾病]