Association of IRS1 gene Pro512Ala polymorphism with nonalcoholic fatty liver disease.

IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Archives of Endocrinology Metabolism Pub Date : 2024-08-26 eCollection Date: 2024-01-01 DOI:10.20945/2359-4292-2023-0216
Asadollah Asadi, Mitra Rostami, Radmehr Shafiee, Abbas Ardalani, Atefeh Dehghanitafti, Zakieh Golshadi, Kiarash Kohansal, Fatemeh Ghasemi, Maryam Najafi, Touraj Mahmoudi, Gholamreza Rezamand, Reza Dabiri, Hossein Nobakht, Hamid Farahani, Seidamir Pasha Tabaeian
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引用次数: 0

Abstract

Objective: This study was designed to investigate the possible effect of the insulin receptor substrate 1 (IRS1) gene rs1801276 polymorphism on the risk of nonalcoholic fatty liver disease (NAFLD).

Subjects and methods: The rs1801276 polymorphism was investigated in 127 controls and 123 biopsy-proven NAFLD patients using PCR-RFLP.

Results: No deviation from Hardy-Weinberg equilibrium was discovered for the rs1801276 variant of IRS1 in either NAFLD patients or controls (P>0.05). The distribution of different rs1801276 genotypes and alleles showed significant variations between controls and NAFLD patients. In comparison to rs1801276 'CC' genotype, the "GG+GC" genotype occurred less frequently in NAFLD patients than in controls, which also persisted after adjustment for confounding factors (P = 0.041, OR = 0.60, 95% CI = 0.45-0.93). In comparison with the IRS1 rs1801276 "C" allele, the "G" allele was significantly less prevalent in NAFLD patients than in controls (P = 0.045, OR = 0.69, 95% CI = 0.58-0.91).

Conclusions: For the first time, we reported a significant association between the IRS1 rs1801276 polymorphism and biopsy-proven NAFLD. More studies are required to further elucidate the contribution of the IRS1 gene to NAFLD susceptibility.

IRS1基因Pro512Ala多态性与非酒精性脂肪肝的关系
研究目的本研究旨在探讨胰岛素受体底物1(IRS1)基因rs1801276多态性对非酒精性脂肪肝(NAFLD)风险的可能影响:采用PCR-RFLP方法对127名对照组和123名经活检证实的非酒精性脂肪肝患者的rs1801276多态性进行了研究:在非酒精性脂肪肝患者和对照组中均未发现 IRS1 的 rs1801276 变异偏离 Hardy-Weinberg 平衡(P>0.05)。不同 rs1801276 基因型和等位基因的分布在对照组和非酒精性脂肪肝患者之间存在显著差异。与rs1801276的 "CC "基因型相比,"GG+GC "基因型在非酒精性脂肪肝患者中的发生率低于对照组,在调整了混杂因素后,这种情况仍然存在(P = 0.041,OR = 0.60,95% CI = 0.45-0.93)。与IRS1 rs1801276 "C "等位基因相比,"G "等位基因在非酒精性脂肪肝患者中的流行率明显低于对照组(P = 0.045,OR = 0.69,95% CI = 0.58-0.91):我们首次报道了IRS1 rs1801276多态性与活检证实的非酒精性脂肪肝之间存在显著关联。要进一步阐明IRS1基因对非酒精性脂肪肝易感性的影响,还需要更多的研究。
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来源期刊
Archives of Endocrinology Metabolism
Archives of Endocrinology Metabolism Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
2.90
自引率
5.90%
发文量
107
审稿时长
7 weeks
期刊介绍: The Archives of Endocrinology and Metabolism - AE&M – is the official journal of the Brazilian Society of Endocrinology and Metabolism - SBEM, which is affiliated with the Brazilian Medical Association. Edited since 1951, the AE&M aims at publishing articles on scientific themes in the basic translational and clinical area of Endocrinology and Metabolism. The printed version AE&M is published in 6 issues/year. The full electronic issue is open access in the SciELO - Scientific Electronic Library Online e at the AE&M site: www.aem-sbem.com. From volume 59 on, the name was changed to Archives of Endocrinology and Metabolism, and it became mandatory for manuscripts to be submitted in English for the online issue. However, for the printed issue it is still optional for the articles to be sent in English or Portuguese. The journal is published six times a year, with one issue every two months.
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