中国当代儿科杂志2005，Vol.7Issue(4)：296-300,5.
瘦素受体基因20外显子突变对儿童脂质代谢影响的临床研究
Effect of the variation of exon 20 of leptin receptor gene on lipid metabolism in children with obesity
摘要
Abstract
Objective To study the relationship of the variation of the exon 20 of leptin receptor (LEPR) gene with lipid metabolism and fat distribution in children with obesity. Methods One hundred and two children with simple obesity (Obesity group) and 81 healthy children (Control group) were enrolled in this study. Polymerase chain reactionrestricted fragments length polymorphism (PCR-RFLP) and polyacrylamide gel electrophoresis were used to analyze the variation of the exon 20 of LEPR gene. The serum levels of triglyceride ( TG), total cholesterol ( TC), and high density lipoprotein cholesterol (HDL-C) were measured. Body mass index (BMI) and fat percentage (% fat) were calculated.Results Three genotypes of the exon 20 of LEPR gene were detected:G/G, G/A and A/A. The frequency of the gene variation at 3 057 nucleotide G→A transversion was significantly higher in the Obesity group when compared with the Control group ( P ＜ 0.05 ). The levels of serum TG ( 1.8 ± 0.5 mmol/L vs 1.0 ± 0.4 mmol/L, P ＜ 0. 01 ), BMI ( 33 ± 5 kg/m2 vs 25 ±4 kg/m2, P ＜0. 05) and % fat (30 ± 8 vs 20 ± 3, P ＜0. 01 ) in obese children with A/A genotype were higher than those of the G/G genotype ones, but the level of serum HDL was lower than that of the G/G genotype patients( 1.08 ± 0.23 mmol/L vs 1.38 ± 0.22 mmol/L, P ＜ 0.01 ). As to the G/A genotype patients, only their serum TG levels were higher than those of the G/G genotype ones ( 1.6 ± 0.4 mmol/L vs 1.0 ± 0.4 mmol/L, P ＜ 0. 05 ). The electrocardiography showed the changes of ST segment and T wave in parts of A/A genotype patients with hyperlipoidemia.Conclusions There we re polymorphisms in children with obesity and these may affect the lipid metabolism and the fat distribution. The study provided theoretic evidence for the early interference of childhood obesity.关键词
瘦素受体/多态性/基因/脂质代谢/肥胖症/儿童Key words
Leptin receptor/Polymorphism, genetic/Lipid metabolism/Obesity/Child分类
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刘长云,卢映,王永芹,刘红英,季加芬,李振荣,李伟华,李兰秀,郑传利..瘦素受体基因20外显子突变对儿童脂质代谢影响的临床研究[J].中国当代儿科杂志,2005,7(4):296-300,5.基金项目
Technology Item of Health Department of Shandong Province( No. 2001 CA1CCB8 ). （ No. 2001 CA1CCB8 ）
