Büettner R, Schäffler A, Arndt H, Rogler G, Nusser J, Zietz B, Enger I, Hügl S, Cuk A, Schölmerich J, Palitzsch K D
Department of Internal Medicine I, University of Regensburg, Germany.
J Clin Endocrinol Metab. 1998 Aug;83(8):2892-7. doi: 10.1210/jcem.83.8.5004.
The beta3-adrenergic receptor (3-BAR) is assumed to play a role in the regulation of energy balance by increasing lipolysis and thermogenesis. A recently detected allelic polymorphism (Trp64Arg polymorphism) has been suggested to contribute to the development of obesity and non-insulin-dependent diabetes mellitus. We examined the prevalence of the two 3-BAR alleles in Germany and looked for associations between 3-BAR genotype and metabolic disorders (obesity and type 2 diabetes mellitus). From over 6450 participants in the Diabetomobile Study, a nationwide epidemiologic study on the prevalence of metabolic disorders (carried out from 1993 to 1996 in Germany), 1259 participants were randomly chosen. The 3-BAR genotype status was determined by 3-BAR gene-specific genomic PCR and consecutive restriction fragment length polymorphism analysis. The frequencies of the different genotypes in the examined cohort were as follows: Trp64/Trp64, 88.3%; Trp64/Arg64, 10.8%; and Arg64/ Arg64, 0.8%. No significant differences between the different genotypes were found when comparing age, body mass index, weight, total and high-density lipoprotein (HDL) cholesterol, fasting insulin, HbA11, and blood pressure; neither did the type 2 diabetes mellitus participants in the different genotype groups differ significantly in terms of age of diabetes onset or HbA11. This is the largest population-based study on the Trp64Arg polymorphism reported yet. The Arg64 allele of the 3-BAR gene was found commonly in Germany. In our cohort, no significant associations between the Arg64 allele and metabolic disorders (e.g. obesity, type 2 diabetes mellitus, dyslipidemia, or hypertension) were detected.
β3肾上腺素能受体（3-BAR）被认为通过增加脂肪分解和产热在能量平衡调节中发挥作用。最近检测到的一种等位基因多态性（色氨酸64精氨酸多态性）被认为与肥胖症和非胰岛素依赖型糖尿病的发生有关。我们研究了德国人群中两种3-BAR等位基因的流行情况，并寻找3-BAR基因型与代谢紊乱（肥胖症和2型糖尿病）之间的关联。在糖尿病移动研究的6450多名参与者中（这是一项于1993年至1996年在德国开展的关于代谢紊乱患病率的全国性流行病学研究），随机选取了1259名参与者。通过3-BAR基因特异性基因组PCR和连续的限制性片段长度多态性分析来确定3-BAR基因型状态。在所研究队列中，不同基因型的频率如下：色氨酸64/色氨酸64，88.3%；色氨酸64/精氨酸64，10.8%；精氨酸64/精氨酸64，0.8%。比较年龄、体重指数、体重、总胆固醇和高密度脂蛋白（HDL）胆固醇、空腹胰岛素、糖化血红蛋白（HbA1c）和血压时，不同基因型之间未发现显著差异；不同基因型组中的2型糖尿病参与者在糖尿病发病年龄或糖化血红蛋白方面也无显著差异。这是迄今为止报道的关于色氨酸64精氨酸多态性的最大规模的基于人群的研究。在德国人群中普遍发现了3-BAR基因的精氨酸64等位基因。在我们的队列中，未检测到精氨酸64等位基因与代谢紊乱（如肥胖症、2型糖尿病、血脂异常或高血压）之间存在显著关联。
