Department of Medical Biology, Faculty of Medicine, Gaziosmanpaşa University, Tokat, Turkey ; Department of Medical Biology, Faculty of Medicine, Tokat and Dumlupinar University, Kütahya, Turkey.
Dis Markers. 2013;35(6):673-7. doi: 10.1155/2013/216279. Epub 2013 Nov 6.
Obesity is a complex heterogeneous disease that is caused by genes, environmental factors, and the interaction between the two. The leptin (LEP) and leptin receptor (LEPR) genes have been evaluated for polymorphisms that could potentially be related to the pathophysiology of obesity and its complications. The aim of this study was to investigate the role of LEP G2548A and LEPR 668A/G polymorphisms in the pathogenesis of obesity.
The study included 127 patients with obesity and 105 healthy controls. Polymerase chain reaction and restriction fragment length analysis for LEP G2548A and LEPR 668A/G polymorphisms were applied.
There was no statistically significant difference in the genotype frequencies of the LEP gene polymorphism between patients and control groups (P > 0.05). We found a difference in the LEPR genotypes between patients and controls, but this was not statistically significant (P = 0.05). Additionally, we found an increased risk of obesity in the LEP/LEPR GG/GG combined genotype (P < 0.05).
Our findings indicate that the LEP G2548A polymorphism is not a relevant obesity marker and that the LEPR 668A/G polymorphism may be related to obesity in a Turkish population. Further researches with larger patient population are necessary to ascertain the implications of LEP and LEPR polymorphisms in obesity.
肥胖是一种复杂的异质性疾病,由基因、环境因素以及两者之间的相互作用所导致。瘦素(LEP)和瘦素受体(LEPR)基因的多态性已被评估,这些多态性可能与肥胖及其并发症的病理生理学有关。本研究旨在探讨 LEP G2548A 和 LEPR 668A/G 多态性在肥胖发病机制中的作用。
该研究纳入了 127 名肥胖患者和 105 名健康对照者。应用聚合酶链反应和限制性片段长度分析技术检测 LEP G2548A 和 LEPR 668A/G 多态性。
患者组和对照组之间 LEP 基因多态性的基因型频率无统计学差异(P > 0.05)。我们发现患者组和对照组之间 LEPR 基因型存在差异,但无统计学意义(P = 0.05)。此外,我们发现 LEP/LEPR GG/GG 组合基因型增加了肥胖的风险(P < 0.05)。
我们的研究结果表明,LEP G2548A 多态性不是肥胖的相关标志物,而 LEPR 668A/G 多态性可能与土耳其人群的肥胖有关。需要进一步开展具有更大患者群体的研究,以确定 LEP 和 LEPR 多态性在肥胖中的意义。