【摘要】 目的　研究 β 3肾上腺素能受体 (β 3AR)基因Trp6 4Arg突变频率及其对体重、血脂、血压、心率及糖尿病发病的影响以及中日民族间的差异。方法　研究了 75 1例中国人该受体基因突变的临床特征 ,并与本文第一作者曾在日本做的研究进行了比较。中国人 :(1 )健康体检者 6 1 4人 ;(2 ) 2型糖尿病患者 1 37人。日本人 :(1 )居民 746人 ;(2 ) 2型糖尿病和 /或高脂血症的内分泌代谢病门诊患者 371人。均测定了身高、体重、血糖、血脂、肝功能。用PCR法扩增含有 β 3AR基因Trp6 4Arg片段 ,限制性内切酶消化 ,判断基因型。结果　 (1 )中国人 β 3AR基因Trp6 4Arg平均突变率为 1 7.8% ,日本人为 2 1 .7% ,两国近似。 (2 )中国人的 β 3AR基因突变率随BMI增高而升高 ,女性肥胖组的基因频率与正常偏瘦组相比差异有显著意义 (P <0 .0 2 )。日本人无明显相关性。中国人该基因突变者的平均BMI与正常基因型相比均显著增高 ,(P分别 <0 .0 0 1与 0 .0 0 2 )。日本人则差异无显著意义。 (3)日本人的纯合子及中国人的杂合子及纯合子男性 β 3AR基因突变者的血胆固醇降低 ,差异有显著意义 ,(日本人P <0 .0 3。中国人P分别 <0 .0 0 1与 0 .0 0 5 )。 (4)日本人男性 β 3AR基因纯合子突变者的收缩压有增高的倾向 (P =0 .0 0 2 6更多还原

【Abstract】 Objective To compare the clinical features associated with the Trp64Arg mutation of the β 3 adrenergic receptor (β 3AR) gene between the Chinese and Japanese, the BMI, blood pressure, heart rate and plasma lipoproteins in the 2 cohorts. were investigated. Methods 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 β 3 adrenergic receptor (β 3AR) gene was performed in all subjects. Results (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 β 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 β 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). Conclusion The Trp64Arg mutation in β 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.更多还原