NAMPT gene rs2058539 variant is a risk factor for nonalcoholic fatty liver disease.

Revista da Associacao Medica Brasileira (1992) Pub Date : 2024-07-19 eCollection Date: 2024-01-01 DOI:10.1590/1806-9282.20230188
Shadi Nouri, Mahsa Navari, Fatemeh Zarei, Mitra Rostami, Touraj Mahmoudi, Gholamreza Rezamand, Asadollah Asadi, Hossein Nobakht, Reza Dabiri, Seidamir Pasha Tabaeian
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Abstract

Objective: Nonalcoholic fatty liver disease is a chronic liver disease and a growing global epidemic. The aim of this study was to investigate the association between a visfatin gene (NAMPT) variant and nonalcoholic fatty liver disease, owing to the connection between this disease and insulin resistance, obesity, inflammation, and oxidative stress, and the role of visfatin in these metabolic disorders.

Methods: In the present case-control study, we enrolled 312 genetically unrelated individuals, including 154 patients with biopsy-proven nonalcoholic fatty liver disease and 158 controls. The rs2058539 polymorphism of NAMPT gene was genotyped using the PCR-RFLP method.

Results: Genotype and allele distributions of NAMPT gene rs2058539 polymorphism conformed to the Hardy-Weinberg equilibrium both in the case and control groups (p>0.05). The distribution of NAMPT rs2058539 genotypes and alleles differed significantly between the cases with nonalcoholic fatty liver disease and controls. The "CC" genotype of the NAMPT rs2058539 compared with "AA" genotype was associated with a 2.5-fold increased risk of nonalcoholic fatty liver disease after adjustment for confounding factors [p=0.034; odds ratio (OR)=2.52, 95% confidence interval (CI)=1.36-4.37]. Moreover, the NAMPT rs2058539 "C" allele was significantly overrepresented in the nonalcoholic fatty liver disease patients than controls (p=0.022; OR=1.77, 95%CI=1.14-2.31).

Conclusion: Our findings indicated for the first time that the NAMPT rs2058539 "CC" genotype is a marker of increased nonalcoholic fatty liver disease susceptibility; however, it needs to be supported by further investigations in other populations.

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NAMPT 基因 rs2058539 变异是非酒精性脂肪肝的风险因素。
目的:非酒精性脂肪肝是一种慢性肝病,在全球日益流行。鉴于非酒精性脂肪肝与胰岛素抵抗、肥胖、炎症和氧化应激之间的联系,以及粘蛋白在这些代谢紊乱中的作用,本研究旨在调查粘蛋白基因(NAMPT)变异与非酒精性脂肪肝之间的关联:在本病例对照研究中,我们招募了 312 名无遗传关系的个体,包括 154 名经活检证实的非酒精性脂肪肝患者和 158 名对照组。采用 PCR-RFLP 方法对 NAMPT 基因的 rs2058539 多态性进行了基因分型:结果:在病例组和对照组中,NAMPT基因rs2058539多态性的基因型和等位基因分布均符合Hardy-Weinberg平衡(P>0.05)。非酒精性脂肪肝病例与对照组的 NAMPT rs2058539 基因型和等位基因的分布存在显著差异。与 "AA "基因型相比,NAMPT rs2058539的 "CC "基因型与非酒精性脂肪肝患病风险增加2.5倍相关(调整混杂因素后)[p=0.034;比值比(OR)=2.52,95%置信区间(CI)=1.36-4.37]。此外,NAMPT rs2058539 "C "等位基因在非酒精性脂肪肝患者中的比例明显高于对照组(P=0.022;OR=1.77,95%CI=1.14-2.31):我们的研究结果首次表明,NAMPT rs2058539 "CC "基因型是非酒精性脂肪肝易感性增加的标志物;然而,这还需要在其他人群中进行进一步调查来证实。
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