Baturin A K, Pogozheva A V, Sorokina E Iu, Makurina O N, Tutel'ian V A
Vopr Pitan. 2012;81(2):23-7.
The development of obesity is determined by lifestyle and genetic mechanisms. In particular, the polymorphisms in the adrenergic receptor genes (ADRB) have been extensively studied for association with obesity-related phenotypes. ADRB3 is an obvious candidate gene given its involvement in the regulation of lipolysis and thermogenesis. ADRB3 Trp64Arg polymorphism, a missense mutation in the first transmembrane domain of the R3-adrenergic receptor is associated with visceral obesity and insulin resistance in the Pima Indian, French, and Finnish populations. The recent meta-analysis that combined data of 6582 individuals from Japanese populations showed significant association the Arg64 allele with increased BMI. There are tested the polymorphisms in the beta3-Adrenoreceptor (ADRB3) gene in associated with body mass index (BMI), fat mass and biochemical parameters.We have been examined 91 persons from Moscow region with BMI >25 kg/m2. The Trp64Arg polymorphism of ADRB3 genes were genotyped with the use of an allelic discrimination assay. The TaqMan-based real-time PCR method was applied. There have been estimated of anthropometric and biochemicalparameters. The frequencies of the Trp64Trp and Trp64Arggenotypes of ADRB3 gene were 82% and 12%, respectively, the frequencies of mutant allele was 6%. Trp64Arg genotypes of ADRB3 compared to Trp64Trp genotypes had significantly higher body fat percentage (respectively 48,6 +/- 0,96% and 43,8 +/- 1,72%, p<0,05), serum glucose (6,51 +/- 0,18 mmol/l and 5,67 +/- 0,09 mmol/l, p<0,01) and uric acid concentrations (0,46 +/- 0,02 mmol/l and 0,38 +/- 0,01 mmol/l, p<0,05). The test of the ADRB3 gene polymorphisms can be used for the personalization of diet in persons with obesity.
肥胖的发展由生活方式和遗传机制决定。特别是，肾上腺素能受体基因（ADRB）的多态性已被广泛研究与肥胖相关表型的关联。ADRB3因其参与脂肪分解和产热调节，是一个明显的候选基因。ADRB3 Trp64Arg多态性，即β3 - 肾上腺素能受体第一个跨膜结构域中的错义突变，与皮马印第安人、法国人和芬兰人群的内脏肥胖和胰岛素抵抗有关。最近一项对来自日本人群的6582名个体数据进行合并的荟萃分析显示，Arg64等位基因与BMI升高存在显著关联。对β3 - 肾上腺素能受体（ADRB3）基因中与体重指数（BMI）、脂肪量和生化参数相关的多态性进行了检测。我们对来自莫斯科地区BMI>25 kg/m²的91人进行了检查。使用等位基因鉴别分析对ADRB3基因的Trp64Arg多态性进行基因分型。应用基于TaqMan的实时PCR方法。对人体测量和生化参数进行了评估。ADRB3基因的Trp64Trp和Trp64Arg基因型频率分别为82%和12%，突变等位基因频率为6%。与Trp64Trp基因型相比，ADRB3的Trp64Arg基因型具有显著更高的体脂百分比（分别为48.6±0.96%和43.8±1.72%，p<0.05）、血清葡萄糖（6.51±0.18 mmol/l和5.67±0.09 mmol/l，p<0.01）和尿酸浓度（0.46±0.02 mmol/l和0.38±0.01 mmol/l，p<0.05）。ADRB3基因多态性检测可用于肥胖人群饮食的个性化。
