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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
Objective To investigate the prevalence of Trp6 4Arg mutation in β3-adrenergic receptor (β3 AR) gene and its gender, body fat content and distribution in patients with simple obesity and metabolic syndrome (MS). Methods Two hundred and ninety-five patients with simple obesity and 219 patients with MS were enrolled. 172 non-obese subjects were used as controls to detect the Trp6 4Arg mutation of β3 AR gene. And further compared the gender differences in gene mutation and obesity body mass index (BMI) and waist circumference grouped gene mutation rate. Results The mutation frequency of Trp6 4Arg in β3 AR gene in MS group was higher than that in simple obesity group and control group, mainly in males (32 2 5%, 2 1 0 1% and 19 91%, P 0 05) (32.25% vs 23.6%, P <0.01), and higher than the females in this group. After further grouping, we found that the frequency of genetic mutation in male patients with mild obesity in MS group was higher than that in male and obese group (32 83% vs 17 35%, P <0 05 and 32 83% respectively) vs 2 0 4 1%, P <0 0 5). The frequency of genetic mutations in severe abdominal fat accumulation in men was also higher in MS group than in simple obesity group (35 71% vs 20 16%, P <0 05). Conclusion The frequency of Trp6 4Arg mutation in β3 AR gene is significantly higher in MS group with more centripetal body fat distribution, which may be an important genetic marker for MS patients