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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/ A
Objective To investigate the effect of combined mutation of Trp6 4 Arg and uncoupling protein 2 gene Ala5 5 Val of β3-adrenergic receptor (ADRβ3) gene on obesity in Chinese Han population. Methods The variations of Ala5 5 Val of Trp6 4 Arg and UCP2 gene of ADRβ3 gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Among 119 obesity patients, the average body mass index (BMI) was (2 7.9 ± 2.98) kg / m2 in 177 normal controls with an average BMI of (2 1.9 ± 1.9) kg / m2. Results (1) There was no significant difference in the frequency of ADRβ3 gene Trp6 4 Arg mutation between obese patients and controls (P> 0.05). The normal subjects with Trp6 4 Arg gene mutation had higher fasting and Oral glucose tolerance test (oral glucose tolerance test, OGTT) 2 hours blood glucose level. (2) The gene frequencies of Ala5 5 Val homozygous mutation in UCP2 gene were significantly higher in obese patients than those in normal controls (OR = 3.71, P = 0.001); those with normal Ala5 5 Val gene mutation were higher BMI level. (3) In the single UCP2 or ADRβ3 gene mutation, there was no significant difference in the frequencies of the variant genes between the obesity group and the normal one (P> 0.05). However, when both UCP2 and ADRβ3 genes were mutated, The mutation frequency was significantly higher than the normal group (OR = 2.57, P = 0.090). (4) Carry Val / Val + Trp / A