单纯肥胖与代谢综合征患者β3-肾上腺素能受体基因Trp64Arg突变的比较

目的　研究单纯肥胖和代谢综合征 (MS)患者 β3 肾上腺素能受体 (β3 AR)基因Trp6 4Arg突变的发生率及其性别、体脂含量和分布的差异。方法　选择单纯性肥胖症患者 2 95例和MS患者2 19例 ,并以 172例非肥胖者作为对照 ,进行 β3 AR基因Trp6 4Arg突变检测。并进一步比较基因突变的性别差异和对肥胖者按体重指数 (BMI)及腰围分组后的基因突变率。结果　MS组 β3 AR基因Trp6 4Arg突变频率高于单纯肥胖症组和对照组 ,主要表现在男性 (分别为 32 2 5 % ,2 1 0 1%和 19 91% ,P值均 <0 0 5 ) ,并高于本组女性 (32 2 5 %vs 2 3 4 6 % ,P <0 0 1)。进一步分组后发现 ,MS组中男性轻度肥胖者基因突变频率高于本组女性及单纯肥胖组男性轻度肥胖者 (分别为 32 83%vs 17 35 % ,P <0 0 5和 32 83%vs 2 0 4 1% ,P <0 0 5 )。男性腹部脂肪重度堆积者基因突变频率也以MS组高于单纯肥胖组 (35 71%vs 2 0 16 % ,P <0 0 5 )。结论　β3 AR基因Trp6 4Arg突变频率在体脂向心性分布较明显的MS组男性明显升高 ,可能是男性MS患者的重要遗传标志

Investigation and comparison of the beta(3)-adrenergic receptor gene Trp64Arg mutation in simple obesity and metabolic syndrome

OBJECTIVE: To investigate and compare Trp64Arg mutation of beta(3)-adrenergic receptor (beta(3)-AR) gene in simple obesity and metabolic syndrome (MS), and to correlate the mutation difference with sex, total body fat and fat distribution. METHODS: Mutation study was carried out with PCR in 295 subjects with simple obesity and 219 subjects with MS. The subjects were stratified by body mass index (BMI) as light obesity group (BMI 25 approximately 29.9 kg/m(2)) and serious obesity group (BMI >/= 30 kg/m(2)) and by mean of waist circumference (WC) as abdominal adipose tissue light depot group (WC < 104 cm in male and WC < 88 cm in female) and serious depot group (WC >/= 104 cm in male and WC >/= 88 cm in female). 175 healthy non-obese subjects were selected as controls. RESULTS: The frequency of Trp64Arg mutation of beta(3)-AR gene was higher in the male subjects with MS than those with simple obesity and non-obese controls (32.25%, 21.01% and 19.91%, respectively, P < 0.05) and also higher than female ones with MS (32.35% vs 23.46%, P < 0.01). It was found by further stratification that the frequency of Trp64Arg mutation of beta(3)-AR gene was higher in the male light obesity group with MS than female light obesity group with MS. The frequency is also higher than that in the male light obesity group of the obese subjects (32.83% vs 17.35%, P < 0.05 and 32.83% vs 20.41%, P < 0.05, respectively). The frequency of mutation was higher in male abdominal adipose tissue serious depot subjects with MS than those with simple obesity (35.71% vs 20.16%, P < 0.05). CONCLUSION: Trp64Arg mutation of beta(3)-AR gene may be used as a genetic marker for MS in male.