Sun L, Yoko I, Shun I
Dalian Railway Hospital, Dalian 116001, China.
Zhonghua Yi Xue Za Zhi. 2000 Feb;80(2):107-10.
To compare the clinical features associated with the Trp64Arg mutation of the beta 3-adrenergic receptor (beta 3AR) gene between the Chinese and Japanese, the BMI, blood pressure, heart rate and plasma lipoproteins in the 2 cohorts. were investigated.
Two groups of Chinese patients including 614 non-diabetes (ND) (group 1) and 137 NIDDM (group 2), and 2 groups of Japanese patients including 746 health check people in Hachijo Island (group A) and 371 outpatients with diabetes or/and hyperlipidemia (group B) were investigated. PCR for the Trp64Arg mutation in the beta 3-adrenergic receptor (beta 3AR) gene was performed in all subjects.
(1) The allelic frequency of the Trp64Arg mutation was 19.7% in NIDDM and 17.4% in ND group, mean 17.8% in the Chinese, and 23% in the group A and 18.3% in the group B, mean 21.7% in the Japanese. (2) The frequency of Trp64Arg mutation in the beta 3AR gene was gradually increased with the increase in BMI in the Chinese and the significance was shown in women between BMI < 25 and BMI > 28 (15.9% vs. 29.1%, P < 0.02). The Trp64Arg genotypes of the beta 3AR had a significantly higher BMI compared with Trp64Trp genotype in the Chinese (P < 0.001 and 0.002, respectively). But no significant differences were found in the Japanese. (3) A significant lower total cholesterol in Arg64Arg than in Trp64Trp was seen in Japanese men (P = 0.03), and in both Arg64Arg and Trp64Arg in Chinese men (P < 0.001 and P < 0.005). (4) Slightly higher systolic blood pressure was observed in Arg64Arg than in Trp64Trp in Japanese men (P = 0.0 026), and significantly higher heart rate in Arg64Arg than Trp64Arg and Trp64Trp in Chinese (P < 0.001). (5) HDL-C was significantly lower in Arg64Arg than in Trp64Trp in the Chinese, (P < 0.001).
The Trp64Arg Department of Metabolic Diseases, Faculty of Medicine, University of Tokyo (Yoko Iizuka, Shun Ishibashi, Takanari Gotoda), Institute of Clinical Medicine University of Tsukuba, Tsukuba, Japan (Nobuhiro Yamada) mutation in beta 3-adrenergic receptor gene contributes to the increased body weight in the Chinese, especially in older women, but not in the Japanese, and to the lower plasma total cholesterol levels in both Chinese and Japanese men, and it potentially contributes to higher systolic blood pressure, faster heart rate and lower HDL-c as well.
比较中国和日本人群中β3 - 肾上腺素能受体（β3AR）基因Trp64Arg突变相关的临床特征，对两组人群的体重指数（BMI）、血压、心率和血浆脂蛋白进行研究。
调查两组中国患者，包括614例非糖尿病患者（第1组）和137例2型糖尿病患者（第2组），以及两组日本患者，包括八丈岛的746名健康体检者（A组）和371例糖尿病或/和高脂血症门诊患者（B组）。对所有受试者进行β3 - 肾上腺素能受体（β3AR）基因Trp64Arg突变的聚合酶链反应（PCR）检测。
（1）Trp64Arg突变的等位基因频率在2型糖尿病组为19.7%，非糖尿病组为17.4%，中国人平均为17.8%；A组为23%，B组为18.3%，日本人平均为21.7%。（2）中国人中β3AR基因Trp64Arg突变频率随BMI增加而逐渐升高，在BMI＜25和BMI＞28的女性中差异有统计学意义（15.9%对29.1%，P＜0.02）。中国人中β3AR基因Trp64Arg基因型的BMI显著高于Trp64Trp基因型（分别为P＜0.001和0.002）。但在日本人中未发现显著差异。（3）日本男性中，Arg64Arg基因型的总胆固醇显著低于Trp64Trp基因型（P = 0.03），中国男性中Arg64Arg和Trp64Arg基因型的总胆固醇均显著低于Trp64Trp基因型（P＜0.001和P＜0.005）。（4）日本男性中，Arg64Arg基因型的收缩压略高于Trp64Trp基因型（P = 0.0026），中国人群中Arg64Arg基因型的心率显著高于Trp64Arg和Trp64Trp基因型（P＜0.001）。（5）中国人中，Arg64Arg基因型的高密度脂蛋白胆固醇（HDL - C）显著低于Trp64Trp基因型（P＜0.001）。
β3 - 肾上腺素能受体基因的Trp64Arg突变导致中国人尤其是老年女性体重增加，而在日本人中未出现这种情况，并且该突变导致中国和日本男性血浆总胆固醇水平降低，还可能导致收缩压升高、心率加快和HDL - C降低。
东京大学医学部代谢疾病科（饭冢洋子、石桥俊、后藤贵成），筑波大学临床医学研究所，日本筑波（山田信博）
