Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Pharmaceutical Sciences, Universitá degli Studi di Milano, Milan, Italy.
Lab Med. 2024 Sep 4;55(5):590-594. doi: 10.1093/labmed/lmae016.
Given that obesity and insulin resistance play key roles in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) and the connection between leptin and these metabolic diseases, the association between NAFLD and a leptin receptor gene (LEPR) polymorphism was examined.
In this genetic case-control association study, 144 biopsy-proven NAFLD patients and 144 controls were genotyped for the LEPR gene Gln223Arg (rs1137101) polymorphism using the polymerase chain reaction-restriction fragment length polymorphism method.
The distributions of genotypes and alleles of Gln223Arg variant were in accordance with the Hardy-Weinberg equilibrium in the study groups (P > .05). Multivariate logistic regression analysis showed that the LEPR Gln223Arg Arg/Arg genotype was an independent risk factor for NAFLD; the Arg/Arg genotype, compared with the Gln/Gln genotype, was associated with a 2.09-fold increased risk for NAFLD (P = .036, odds ratio = 2.09 [95% CI = 1.31-5.95]).
We found that the LEPR Gln223Arg Arg/Arg genotype was independently associated with a more than 2-fold rise in biopsy-proven NAFLD risk. Our findings, however, need to be corroborated by further studies.
鉴于肥胖和胰岛素抵抗在非酒精性脂肪性肝病（NAFLD）的发病机制中起着关键作用，以及瘦素与这些代谢疾病之间的联系，本研究旨在探讨 NAFLD 与瘦素受体基因（LEPR）多态性之间的关系。
在这项基于遗传的病例对照关联研究中，采用聚合酶链反应-限制性片段长度多态性方法，对 144 例经肝活检证实的 NAFLD 患者和 144 例对照者的 LEPR 基因 Gln223Arg（rs1137101）多态性进行了基因分型。
研究组基因型和等位基因的分布均符合 Hardy-Weinberg 平衡（P＞.05）。多变量 logistic 回归分析显示，LEPR Gln223Arg Arg/Arg 基因型是 NAFLD 的独立危险因素；与 Gln/Gln 基因型相比，Arg/Arg 基因型与 NAFLD 的风险增加 2.09 倍相关（P＝.036，比值比＝2.09[95%可信区间：1.31-5.95]）。
我们发现，LEPR Gln223Arg Arg/Arg 基因型与经肝活检证实的 NAFLD 风险增加 2 倍以上独立相关。然而，我们的研究结果还需要进一步研究加以证实。
