Arashiro Rina, Katsuren Keisuke, Fukuyama Shigeru, Ohta Takao
Department of Pediatrics, Faculty of Medicine, University of The Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125 Japan.
Pediatr Int. 2003 Apr;45(2):135-41. doi: 10.1046/j.1442-200x.2003.01685.x.
Obesity is a multifactorial syndrome influenced by both genetic and behavioral factors. Trp64Arg mutation of the beta3-adrenergic receptor (AR) gene and C161T substitution of the peroxisome proliferator-activated receptor (PPAR) gamma gene have been reported to be associated with obesity or lipid metabolism in adults. However, the effects of these mutations on children have not yet been clarified. For this reason, we studied the effects of Trp64Arg mutation of the beta3-AR gene and C161T substitution of the PPARgamma gene on obesity in Japanese children.
In order to determine the effects of Trp64Arg mutation of the beta3-AR gene and C161T substitution of the PPARgamma gene on obesity in children, 105 obese Japanese children were screened by the polymerase chain reaction and restriction fragment-length polymorphism analysis. Plasma lipid, apolipo-protein (apo), glucose, insulin and leptin levels were also determined.
Obese boys with Trp64Arg showed a higher obesity index and lower plasma levels of high-density lipoprotein cholesterol (HDL-C), apoA-I and apoA-II than those of them without the mutation. Obese boys with both mutations showed a higher plasma leptin level than those with only the beta3-AR gene mutation or PPARgamma gene mutation. No significant effect of these mutations was found in obese girls.
All of these data suggest that Trp64Arg mutation of the beta3-AR gene might affect obesity and HDL metabolism in obese boys. In contrast, C161T mutation of the PPARgamma gene, by itself, is unlikely to influence obesity, lipid metabolism or plasma leptin levels.
肥胖是一种受遗传和行为因素影响的多因素综合征。据报道,β3-肾上腺素能受体(AR)基因的Trp64Arg突变和过氧化物酶体增殖物激活受体(PPAR)γ基因的C161T替代与成年人的肥胖或脂质代谢有关。然而,这些突变对儿童的影响尚未阐明。因此,我们研究了β3-AR基因的Trp64Arg突变和PPARγ基因的C161T替代对日本儿童肥胖的影响。
为了确定β3-AR基因的Trp64Arg突变和PPARγ基因的C161T替代对儿童肥胖的影响,通过聚合酶链反应和限制性片段长度多态性分析对105名肥胖的日本儿童进行了筛查。还测定了血浆脂质、载脂蛋白(apo)、葡萄糖、胰岛素和瘦素水平。
携带Trp64Arg的肥胖男孩比未携带该突变的男孩具有更高的肥胖指数以及更低的血浆高密度脂蛋白胆固醇(HDL-C)、apoA-I和apoA-II水平。同时携带两种突变的肥胖男孩比仅携带β3-AR基因突变或PPARγ基因突变的男孩具有更高的血浆瘦素水平。在肥胖女孩中未发现这些突变有显著影响。
所有这些数据表明,β3-AR基因的Trp64Arg突变可能会影响肥胖男孩的肥胖和HDL代谢。相比之下,PPARγ基因的C161T突变本身不太可能影响肥胖、脂质代谢或血浆瘦素水平。