{"title":"Association of <i>IRS1</i> gene Pro512Ala polymorphism with nonalcoholic fatty liver disease.","authors":"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","doi":"10.20945/2359-4292-2023-0216","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>This study was designed to investigate the possible effect of the insulin receptor substrate 1 <i>(IRS1)</i> gene rs1801276 polymorphism on the risk of nonalcoholic fatty liver disease (NAFLD).</p><p><strong>Subjects and methods: </strong>The rs1801276 polymorphism was investigated in 127 controls and 123 biopsy-proven NAFLD patients using PCR-RFLP.</p><p><strong>Results: </strong>No deviation from Hardy-Weinberg equilibrium was discovered for the rs1801276 variant of <i>IRS1</i> in either NAFLD patients or controls (<i>P</i>>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 (<i>P</i> = 0.041, OR = 0.60, 95% CI = 0.45-0.93). In comparison with the <i>IRS1</i> rs1801276 \"C\" allele, the \"G\" allele was significantly less prevalent in NAFLD patients than in controls (<i>P</i> = 0.045, OR = 0.69, 95% CI = 0.58-0.91).</p><p><strong>Conclusions: </strong>For the first time, we reported a significant association between the <i>IRS1</i> rs1801276 polymorphism and biopsy-proven NAFLD. More studies are required to further elucidate the contribution of the <i>IRS1</i> gene to NAFLD susceptibility.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e230216"},"PeriodicalIF":1.6000,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460970/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of Endocrinology Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.20945/2359-4292-2023-0216","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
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.
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.