Abstract: Objective To explore the relationship between rs9939609,rs8050236 sites of FTO gene with simple obesity. Methods A total of 208 children (aged from 3 to 18) in Liuzhou were enrolled.Body height,weight and waistline were measured.Serum fasting plasm glucose,cholesterol,triglyceride,high-density lipoprotein and low-density lipoprotein were measured.FTO gene rs9939609 (A/T) and rs8050136 (C/A) sites single nucleotide polymorphisms were detected by SNaPshot assay. Results The obesity group showed the components of the metabolic parameters (FBG,TC,TG,HDL-C and VDL-C) were significant differences compared to control group.The TT,AT and AA genotype frequencies of FTO gene rs9939609(A/T) in simple obesity group and normal control group were 79.85%,17.16%,2.99% and 71.52%,25.17%,3.31%,respectively,the T,A allelic frequencies in simple obesity group and normal control group were 88.43%,11.57% and 84.10%,15.89%,respectively.And OR was 1.45,95%CI was 0.89~2.35.The CC,CA and AA of rs8050136(C/A) were 77.61%,19.40%,2.97% and 70.76%,25.83%,3.31%,respectively.The C,A allelic frequencies in simple obesity group and normal control group were 87.31%,12.69% and 83.77%,16.23%,respectively.And OR was 1.333,95%CI was 0.831~2.137.The genotype and allelic frequencies of rs9939609 (T/A) and rs8050136 (C/A) in simple obesity children were not significantly different from those in controls (P>0.05),the two sites single nucleotide polymorphisms were found in Hardy Weinberg equilibrium.There was no significant association between the two sites (rs9939106 and rs8050136) and obestity-related traits including FBG,TC,TG,HDL-C and VDL-C. Conclusions FTO gene rs9939609 and rs8050136 polymorphisms are not associated with simple obesity in Chinese Zhuang children in Liuzhou of Guangxi province,and there was no significant association among the polymorphisms of two sites and metabolic parameters.

Key words: genetic polymorphism, obesity, children of Zhuang nationality

摘要： 目的 探讨FTO基因单核苷酸多态性位点rs9939609、rs8050136与壮族儿童肥胖的相关性,为预防肥胖的发生、发展提供参考依据。方法 利用SNaPshot技术分析151 例柳州壮族肥胖儿童和134例健康对照儿童的FTO 基因rs9939609、rs8050136,统计基因型及等位基因频率分布状况,并分析其与肥胖代谢的关联性。结果 健康对照组和肥胖组FTO 基因rs9939609T/T型、T/A型及A/A型基因型频率分别为79.85%、17.16%、2.99%和71.52%、25.17%、3.31%,两组等位基因频率分别为88.43%、11.57%和84.10%、15.89%,A等位基因的OR值为1.45,95%的可信区间为0.89-2.35。rs8050136C/C型、C/A型及A/A型基因型频率分别为77.61%、19.40%、2.97%和70.76%、25.83%、3.31%,两组等位基因频率分别为87.31%、12.69%和83.77%、16.23%,A等位基因的OR值为1.33,95%的可信区间为0.83~2.14。两组基因型与等位基因频率差异均无统计学意义(P>0.05)。经Hardy-Weinberg遗传平衡定律检验,其等位基因在两种人群中的分布符合遗传平衡,说明样本具有群体代表性。rs9939609位点AA与TT/AT基因型及rs8050136位点AA与CC/CA基因型与各代谢指标(血糖、总胆固醇、甘油三酯、高密度脂蛋白、低密度脂蛋白)无显著相关性。结论 FTO基因rs9939609、rs8050136位点多态性与广西壮族儿童肥胖无相关性,各基因型携带者间代谢指标差异也无统计学意义。

关键词: 基因多态性, 肥胖, 壮族儿童
中图分类号:R179 文献标识码:A 文章编号:1008-6579(2015)10-1023-04 doi:10.11852/zgetbjzz2015-23-10-05