Ueda K, Tanizawa Y, Oota Y, Inoue H, Kizuki N, Inoue H, Tsukuda K, Asano T, Oka Y
Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube, Japan.
Metabolism. 1997 Feb;46(2):199-202. doi: 10.1016/s0026-0495(97)90302-4.
Prompted by the recent findings that a tryptophan to arginine (Trp64Arg) mutation in the beta3-adrenergic receptor gene was associated with an earlier onset of non-insulin-dependent diabetes mellitus (NIDDM) in Pima Indians, with abdominal obesity and insulin resistance in Finns, and with an increased capacity to gain weight in French whites, we studied the prevalence of this mutation in 231 diabetic and 95 nondiabetic Japanese subjects and assessed its contribution to the development of obesity and NIDDM. The allelic frequencies of the mutation were 0.18 in diabetic and 0.23 in nondiabetic subjects, showing no significant difference between the two groups (P = .067). In nondiabetic subjects, body mass index (BMI) did not differ between those with and without the mutation (22.2 +/- 3.5 v 21.4 +/- 3.2 kg/m2, P = .252). In NIDDM subjects, BMI at the time of study and maximal BMI before the start of treatment did not differ between those with and without the mutation (22.8 +/- 2.6 v 23.2 +/- 3.7 kg/m2, P = .678, and 24.7 +/- 2.6 v 24.9 +/- 3.1 kg/m2, P = .277). Homozygotes for the mutation did not have trends to have increased BMI in either diabetic or nondiabetic subjects. The age at diagnosis of NIDDM also did not differ between the two groups (48.8 +/- 9.9 v 47.8 +/- 12.5 years, P = .796). Fasting serum cholesterol and triglyceride levels and systolic and diastolic blood pressure before the start of treatment did not differ between NIDDM subjects with and without the mutation. In conclusion, although the Trp64Arg mutation is not uncommon in Japanese, it does not appear to be associated with obesity, NIDDM, age at diagnosis of NIDDM, or dyslipidemia. Our results suggest that the mutation has minor effects, if any, on the development of obesity and NIDDM in Japanese.
近期研究发现，β3 - 肾上腺素能受体基因中的色氨酸突变为精氨酸（Trp64Arg）与皮马印第安人非胰岛素依赖型糖尿病（NIDDM）的早发、芬兰人的腹部肥胖和胰岛素抵抗以及法国白人的体重增加能力增强有关。受此启发，我们研究了231名糖尿病日本受试者和95名非糖尿病日本受试者中该突变的患病率，并评估了其对肥胖和NIDDM发生发展的影响。该突变的等位基因频率在糖尿病患者中为0.18，在非糖尿病患者中为0.23，两组之间无显著差异（P = 0.067）。在非糖尿病受试者中，有突变和无突变者的体重指数（BMI）无差异（22.2±3.5对21.4±3.2kg/m²，P = 0.252）。在NIDDM受试者中，研究时的BMI以及治疗开始前最高BMI在有突变和无突变者之间无差异（22.8±2.6对23.2±3.7kg/m²，P = 0.）。在糖尿病或非糖尿病受试者中，该突变的纯合子均无BMI增加的趋势。两组NIDDM的诊断年龄也无差异（48.8±9.9对47.8±12.5岁，P = 0.796）。治疗开始前，有突变和无突变的NIDDM受试者的空腹血清胆固醇和甘油三酯水平以及收缩压和舒张压无差异。总之，尽管Trp64Arg突变在日本人中并不罕见，但它似乎与肥胖、NIDDM、NIDDM诊断年龄或血脂异常无关。我们的结果表明，该突变对日本人肥胖和NIDDM的发生发展影响较小（若有影响的话）。
