Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Acta Paediatr. 2010 Aug;99(8):1213-7. doi: 10.1111/j.1651-2227.2010.01778.x. Epub 2010 Feb 23.
Leptin is one of the factors affecting serum lipid profile. We investigated the association between serum lipids and leptin/leptin receptor (LEPR) gene polymorphisms in obese Japanese children.
One hundred and thirty-six obese children (99 males and 37 females, relative weight over than 20%) from 5 to 17 years of age were recruited from 10 institutes. Four known polymorphisms in leptin gene [(+19)A G, (-2548)G A, (-188)C A, (-633)C T] and four known polymorphisms in LEPR gene [Lys109Arg, Gln223Arg, Pro(G)1019Pro(A), Ser(T)343Ser(C)] were determined using polymerase chain reaction-restriction fragment length polymorphism-based analyses.
No associations were found between leptin gene polymorphisms and serum lipid profile. On the other hand, Lys109Arg and Ser343Ser polymorphism in LEPR gene, but not Gln223Arg or Pro1019Pro, had significant relationships with serum lipid profile; lower total and low-density lipoprotein cholesterol levels in Arg109Arg homozygotes, and lower TG levels in Ser343Ser(C/C) homozygotes. In addition, LEPR gene also associated with relative weight; Arg109Arg homozygotes had higher relative weight and Ser343Ser(C/C) homozygotes had lower one.
These results suggest that LEPR gene polymorphisms may partly contribute to serum lipid profile in obese children.
瘦素是影响血清脂质谱的因素之一。我们研究了肥胖日本儿童血清脂质与瘦素/瘦素受体（LEPR）基因多态性之间的关系。
从 10 个研究所招募了 136 名肥胖儿童（99 名男性和 37 名女性，体重相对超过 20%），年龄在 5 至 17 岁之间。使用聚合酶链反应-限制性片段长度多态性分析确定了瘦素基因中的 4 个已知多态性[（+19）A>G、（-2548）G>A、（-188）C>A、（-633）C>T]和 LEPR 基因中的 4 个已知多态性[Lys109Arg、Gln223Arg、Pro（G）1019Pro（A）、Ser（T）343Ser（C）]。
未发现瘦素基因多态性与血清脂质谱之间存在关联。另一方面，LEPR 基因中的 Lys109Arg 和 Ser343Ser 多态性与血清脂质谱有关，而 Gln223Arg 或 Pro1019Pro 则没有；Arg109Arg 纯合子的总胆固醇和低密度脂蛋白胆固醇水平较低，Ser343Ser（C/C）纯合子的 TG 水平较低。此外，LEPR 基因还与相对体重有关；Arg109Arg 纯合子的相对体重较高，Ser343Ser（C/C）纯合子的相对体重较低。
这些结果表明，LEPR 基因多态性可能部分导致肥胖儿童的血清脂质谱发生变化。
