β_3-肾上腺素能受体基因及解偶联蛋白2基因复合变异与中国人肥胖症的关系  

Additive effects of the variants in the β_3-adrenergic-receptor and uncoupling protein-2 genes on obesity in Chinese

作　　者：隋昳[1] 翁建平[1] 修玲玲[1] 王晶[1] 严晋华[1] 

机构地区：[1]中山大学附属第一医院内分泌科,广州510080

出　　处：《中华医学遗传学杂志》2004年第3期229-232,共4页Chinese Journal of Medical Genetics

基　　金：广东省科技攻关项目 (2 KM0 50 0 1 5)~~

摘　　要：目的　探讨 β3-肾上腺素能受体 ( β3- adrenergic receptor,ADRβ3)基因 Trp6 4 Arg和解偶联蛋白 2 ( uncoupling protein 2 ,UCP2 )基因 Ala5 5 Val复合变异对中国汉族人群肥胖症发生的影响。方法　采用聚合酶链反应 -限制性片段长度多态性 ( PCR- RFL P)技术 ,对 ADRβ3基因 Trp6 4 Arg和 UCP2基因Ala5 5 Val变异进行检测。 119例肥胖症患者 ,平均体重指数 ( body mass index,BMI)为 ( 2 7.9± 2 .98) kg/m2 ,177名正常对照组 ,平均 BMI为 ( 2 1.9± 1.9) kg/ m2 。结果　 ( 1)肥胖患者的 ADRβ3基因 Trp6 4 Arg突变携带者的频率与正常对照组的差异无显著性 ( P>0 .0 5 ) ;正常人携带 Trp6 4 Arg基因变异者有较高的空腹和口服葡萄糖耐量试验 ( oral glucose tolerance test,OGTT) 2小时血糖水平。 ( 2 )肥胖患者携带 UCP2基因 Ala5 5 Val纯合子变异的基因频率明显高于正常对照组的 ( OR=3.71,P=0 .0 0 1) ;正常人携带 Ala5 5 Val基因变异者有较高的 BMI水平。 ( 3)单一的 UCP2或 ADRβ3基因变异时 ,肥胖组的变异基因频率与正常人的分布差异无显著性 ( P>0 .0 5 ) ;但 UCP2和ADRβ3两基因同时发生变异时 ,肥胖组的变异基因频率则明显高于正常组 ( OR=2 .5 7,P=0 .0 0 9)。 ( 4 )携带 Val/ Val+Trp/Objective To investigate the additive effects of uncoupling protein 2 ( UCP2) gene Ala55Val variation and ADRβ 3 gene Trp64Arg variation on the obesity in Chinese Han population. Methods The UCP2 gene Ala55Val variation and ADRβ 3 gene Trp64Arg variation were examined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in 119 obese subject with mean BMI (27.9±2.98)kg/m 2 and in 177 control subjects with mean BMI(21.9±1.9)kg/m 2. The additive effects of the two gene mutations were analyzed. Results (1) The frequency of ADRβ 3 gene Trp64Arg variation in obese subjects was not significantly different from that in control subjects. In control subjects, the Trp64Arg variation carriers had higher fasting glucose level and 2-hour-post-prandial glucose level than did non-carriers. (2) The frequency of homozygote of UCP2 gene Ala55Val variation in obese subjects was higher than that in the control subjects (OR=3.71, P =0.001). In control subjects the Ala55Val variation carriers had higher BMI. (3) When there was only UCP2 gene or ADRβ 3 gene mutation, the frequency of gene mutation in obese subjects was not significantly different from that in control subjects ( P >0.05). But when there were simultaneously two gene mutations, the frequency of gene mutations was higher in obese subjects than in control subjects (OR=2.57, P =0.009). (4) The genotype carriers with Val/Val+ Trp/Arg were the greatest relation to obese obesity (OR=8.58, P =0.002). Conclusion The homozygote of UCP2 gene Ala55Val mutation increases the risk of obesity. Though the UCP2 gene mutation alone or the ADRβ 3 gene mutation alone is not associated with obesity, the possible additive effects of the two micro-genes increase the occurring of obesity.

关 键 词：Β3-肾上腺素能受体基因 解偶联蛋白2基因 肥胖症 基因突变 

分 类 号：R589.2[医药卫生—内分泌]