Department of Pediatrics and Endocrinology, Warsaw Medical University, Warsaw, Poland.
Eur J Med Res. 2009 Dec 7;14 Suppl 4(Suppl 4):201-4. doi: 10.1186/2047-783x-14-s4-201.
The aim of the study was to investigate whether the Gln223Arg in the leptin receptor may influence body weight, leptin concentration, and metabolic parameters in children.
The examined group included 101 obese children (58 girls and 43 boys) with BMI 31.41 +/-5.03 kg/m(2) (BMI > or = 2 SDS) and the control group consisted of 41 children with BMI 20.0 +/-0.80 kg/m2 (BMI <1.0 SDS). Polymorphism identification was performed in total genomic DNA using PCR-RFLP method.
The distribution of genotypes LEPR was the following: in the obese group: AA - 20.8%, AG- 55.4%, GG-23.8 %; in the control group AA-31.7%, AG- 53.65%, GG-14.65%. Comparative analyses between AA homozygous children and carriers of G alleles did not confirm any relation between the analyzed polymorphism and BMI, leptin concentrations, and metabolic disturbances in children with obesity.
In children with obesity we did not observe association of the LEPR Gln223Arg gene polymorphism with obesity, leptin, insulin resistance, and metabolic abnormalities.
本研究旨在探讨瘦素受体 Gln223Arg 多态性是否会影响儿童的体重、瘦素浓度和代谢参数。
研究组纳入 101 例肥胖儿童（58 名女孩和 43 名男孩），BMI 为 31.41 ± 5.03kg/m²（BMI≥2 SDS）；对照组纳入 41 例 BMI 为 20.0 ± 0.80kg/m²（BMI＜1.0 SDS）的儿童。采用 PCR-RFLP 法检测总基因组 DNA 中的多态性。
LEPR 的基因型分布如下：肥胖组 AA 基因型为 20.8%，AG 基因型为 55.4%，GG 基因型为 23.8%；对照组 AA 基因型为 31.7%，AG 基因型为 53.65%，GG 基因型为 14.65%。对 AA 纯合子儿童和 G 等位基因携带者进行比较分析，并未证实分析的多态性与肥胖儿童的 BMI、瘦素浓度和代谢紊乱之间存在任何关系。
在肥胖儿童中，我们未观察到 LEPR Gln223Arg 基因多态性与肥胖、瘦素、胰岛素抵抗和代谢异常之间存在关联。
