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肥胖儿童和青少年中瘦素(+19)AG、瘦素(2548)GA及瘦素受体Gln223Arg基因多态性与肥胖和代谢综合征的关系

The Relationship of Leptin (+19) AG, Leptin (2548) GA, and Leptin Receptor Gln223Arg Gene Polymorphisms with Obesity and Metabolic Syndrome in Obese Children and Adolescents.

作者信息

Bilge Serap, Yılmaz Resul, Karaslan Erhan, Özer Samet, Ateş Ömer, Ensari Emel, Demir Osman

机构信息

Department of Pediatrics, Gaziosmanpaşa University Hospital, Tokat, Turkey.

Department of Biochemistry, Gaziosmanpaşa University Hospital, Tokat, Turkey.

出版信息

Pediatr Gastroenterol Hepatol Nutr. 2021 May;24(3):306-315. doi: 10.5223/pghn.2021.24.3.306. Epub 2021 May 4.

Abstract

PURPOSE

Obesity is defined as the abnormal or excessive accumulation of fat over acceptable limits. Leptin is a metabolic hormone present in the circulation in amounts proportional to fat mass. Leptin reduces food intake and increases energy expenditure, thus regulating body weight and homeostasis. Various polymorphisms are present in the leptin gene and its receptor. These polymorphisms may be associated with obesity. This study aimed to show the association of leptin (+19) AG, leptin (2548) GA, and Gln223Arg leptin receptor polymorphisms with obesity and metabolic syndrome in Turkish children aged 6-17 years, and to conduct further investigations regarding the genetic etiology of obesity.

METHODS

A total of 174 patients diagnosed with obesity and 150 healthy children who were treated at Tokat Gaziosmanpaşa Medical School Hospital between September 2014 and March 2015 were included in this study. The ages of the children were between 6 and 17 years, and anthropometric and laboratory results were recorded. Genotyping of leptin (+19) AG, leptin (2548) GA, and leptin receptor Gln223Arg polymorphisms was performed by polymerase chain reaction.

RESULTS

An association between leptin receptor Gln223Arg gene polymorphism and obesity was detected.

CONCLUSION

Further studies are needed to determine the role of genetic etiologies and to indicate the role of leptin signal transmission impairment in the pathogenesis of obesity. We hope that gene therapy can soon provide a solution for obesity.

摘要

目的

肥胖被定义为脂肪异常或过度堆积,超出可接受范围。瘦素是一种代谢激素,其在循环中的含量与脂肪量成正比。瘦素可减少食物摄入并增加能量消耗,从而调节体重和体内平衡。瘦素基因及其受体存在多种多态性。这些多态性可能与肥胖有关。本研究旨在揭示6至17岁土耳其儿童中瘦素(+19)AG、瘦素(2548)GA以及瘦素受体Gln223Arg多态性与肥胖及代谢综合征之间的关联,并就肥胖的遗传病因进行进一步研究。

方法

本研究纳入了2014年9月至2015年3月期间在托卡特加济奥斯曼帕夏医学院医院接受治疗的174例肥胖患儿和150例健康儿童。儿童年龄在6至17岁之间,记录了人体测量和实验室检查结果。通过聚合酶链反应对瘦素(+19)AG、瘦素(2548)GA以及瘦素受体Gln223Arg多态性进行基因分型。

结果

检测到瘦素受体Gln223Arg基因多态性与肥胖之间存在关联。

结论

需要进一步研究以确定遗传病因的作用,并指明瘦素信号传递受损在肥胖发病机制中的作用。我们希望基因治疗能够很快为肥胖问题提供解决方案。

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本文引用的文献

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Leptin as a predictor of metabolic syndrome in prepubertal children.瘦素作为青春期前儿童代谢综合征的预测指标。
Arch Endocrinol Metab. 2017 Jan-Feb;61(1):7-13. doi: 10.1590/2359-3997000000199. Epub 2016 Sep 5.

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