Abstract: Objective To explore the relationship of leptin receptor (LEPR) gene rs1137100 sites single nucleotide polymorphisms (SNPs) with simple obesity. Methods 200 preschool children in Liuzhou were enrolled.Body height,weight and waistline were measured,LEPR gene rs1137100 (A/G) sites single nucleotide polymorphisms were detected by SNaPshot assay. Results The AA,AG and GG genotype frequencies of LEPR gene rs1137100(A/G) in simple obesity group and normal control group were 66.4%,29.9%,3.7% and 68.3%,27.7%,4.0%,respectively,the A,G allelic frequencies in simple obesity group and normal control group were 81.3%,18.7% and 82.2%,17.8%,respectively.And OR was 1.06,95%CI was 0.64~1.74.The genotype and allelic frequencies of rs1137100 (A/G) in simple obesity children were not significantly different from those in controls (P>0.05),the LEPR gene rs1137100 (A/G) sites single nucleotide polymorphisms were found in Hardy Weinberg equilibrium. Conclusions LEPR gene rs1137100 polymorphisms are not associated with simple obesity in Chinese Zhuang preschool children in Liuzhou of Guangxi province.

Key words: leptin, genetic polymorphism, simple obesity, preschool children, Zhuang nationality

摘要： 目的 探讨瘦素受体(leptin receptor,LEPR)基因单核苷酸多态性位点rs1137100 与壮族儿童单纯性肥胖的相关性。方法 对208名柳州某区小学学龄前儿童(年龄均<7岁)分别检测身高和体重,计算BMI。利用SNaPshot技术分析107例单纯性肥胖儿童和101例健康对照儿童的LEPR 基因型及等位基因频率分布状况。结果 肥胖和健康对照组LEPR 基因A/A型、A/G型及G/G型基因型频率分别为66.4%、29.9%、3.7%和68.3%、27.7%、4.0%,两组等位基因频率分别为81.3%、18.7%和82.2%、17.8%,A等位基因的OR值为1.06,95%CI为0.64~1.74。两组基因型与等位基因频率差异均无统计学意义(P>0.05);肥胖与健康对照组LEPR 基因型频率在性别分层中差异均无统计学意义(P>0.05)。肥胖组的BMI水平明显高于对照组,差异有统计学意义(P<0.05)。而肥胖组中各基因型间BMI水平的差异无统计学意义(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。而该位点的等位基因及基因型频率在所收集的肥胖组与对照组样本中分布未见显著异常。结论 LEPR基因rs1137100位点多态性与广西壮族学龄前儿童单纯性肥胖无相关性。

关键词: 瘦素, 基因多态性, 单纯性肥胖, 学龄前儿童, 壮族