{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T04:09:11Z","timestamp":1787371751341,"version":"build-2736575974"},"reference-count":27,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T00:00:00Z","timestamp":1751500800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior, Brasil (CAPES)","award":["001"],"award-info":[{"award-number":["001"]}]},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior, Brasil (CAPES)","award":["23\/16586-6"],"award-info":[{"award-number":["23\/16586-6"]}]},{"name":"S\u00e3o Paulo Research Foundation (FAPESP)","award":["001"],"award-info":[{"award-number":["001"]}]},{"name":"S\u00e3o Paulo Research Foundation (FAPESP)","award":["23\/16586-6"],"award-info":[{"award-number":["23\/16586-6"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Previous large-scale genetic studies identified single-nucleotide polymorphisms (SNPs) of the membrane bound O-acyltransferase domain containing 7 (MBOAT7) and patatin-like phospholipase domain containing 3 (PNPLA3) genes as risk factors for metabolic dysfunction-associated steatotic liver disease (MASLD). However, this has not yet been investigated in Brazilian patients. In this study, we evaluated the association between the PNPLA3 variant rs738409 and MBOAT7 variant rs641738 and the risk of hepatic fibrosis or liver cirrhosis in MASLD etiology. In parallel, we also aimed to evaluate a protective SNP of the mitochondrial amidoxime-reducing component 1 (MTARC1) gene. We also evaluated TM6SF2 rs58542926, GCKR rs1260326 and rs780094, and HSD17B13 rs72613567 and they were not associated with liver fibrosis. The study was conducted at the Department of Gastroenterology and Nutrology, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (HCFMUSP), and included 113 patients with liver fibrosis (F0\u2013F1), 99 patients with significant liver fibrosis (F2\u2013F4), and 90 controls. SNPs were genotyped by quantitative PCR, using TaqMan allelic discrimination assays. Overall, the PNPLA3 GG genotype was more frequent in F2\u2013F4 (23%) and F0\u2013F1 (22%) patients than in controls (9%; p = 0.02). The MBOAT7 TT genotype was significantly associated with fibrosis, with a prevalence of 23% in F2\u2013F4 patients versus 10% in F0\u2013F1 and 11% in controls (p = 0.01). This association was confirmed by regression analysis (OR = 5.01 95% CI: 1.86\u201313.49; p = 1.41 \u00d7 10\u22123). The protective MTARC1 AA genotypes were more frequent in controls (52%) when compared to patients with fibrosis (5% p = 2.76 \u00d7 10\u221220).<\/jats:p>","DOI":"10.3390\/ijms26136406","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:01:33Z","timestamp":1751522493000},"page":"6406","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Polymorphism\u2019s MBOAT7 as Risk and MTARC1 as Protection for Liver Fibrosis in MASLD"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8815-5550","authenticated-orcid":false,"given":"Sofia","family":"Rocha","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia e Hepatologia Tropical\u2014LIM07, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05508-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia P.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia Cl\u00ednica e Experimental\u2014LIM07, Departamento de Gastroenterologia, Hospital das Cl\u00ednicas Faculdade de Medicina da Universidade de S\u00e3o Paulo (HCFMUSP), S\u00e3o Paulo 05403-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0218-1920","authenticated-orcid":false,"given":"Jos\u00e9 Tadeu","family":"Stefano","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia Cl\u00ednica e Experimental\u2014LIM07, Departamento de Gastroenterologia, Hospital das Cl\u00ednicas Faculdade de Medicina da Universidade de S\u00e3o Paulo (HCFMUSP), S\u00e3o Paulo 05403-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta P.","family":"Yokogawa","sequence":"additional","affiliation":[{"name":"Departamento de Patologia, LIM\/03-Laborat\u00f3rio de Medicina Laboratorial, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Gomes-Gouvea","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia e Hepatologia Tropical\u2014LIM07, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05508-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2444-7937","authenticated-orcid":false,"given":"Patricia Momoyo Youshimura","family":"Zitelli","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia Cl\u00ednica e Experimental\u2014LIM07, Departamento de Gastroenterologia, Hospital das Cl\u00ednicas Faculdade de Medicina da Universidade de S\u00e3o Paulo (HCFMUSP), S\u00e3o Paulo 05403-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce Matie Kinoshita","family":"Silva-Etto","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia e Hepatologia Tropical\u2014LIM07, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05508-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduarda Doneg\u00e1","family":"Martins","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia e Hepatologia Tropical\u2014LIM07, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05508-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario G.","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia Cl\u00ednica e Experimental\u2014LIM07, Departamento de Gastroenterologia, Hospital das Cl\u00ednicas Faculdade de Medicina da Universidade de S\u00e3o Paulo (HCFMUSP), S\u00e3o Paulo 05403-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3243-5570","authenticated-orcid":false,"given":"Flavio F.","family":"Alcantara","sequence":"additional","affiliation":[{"name":"Departamento de Patologia, LIM\/03-Laborat\u00f3rio de Medicina Laboratorial, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0660-2371","authenticated-orcid":false,"given":"Raymundo S.","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Departamento de Patologia-LIM01, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05508-000, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3999-0489","authenticated-orcid":false,"given":"Jo\u00e3o Renato","family":"Rebello Pinho","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gastroenterologia e Hepatologia Tropical\u2014LIM07, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05508-000, SP, Brazil"},{"name":"Hospital Israelita Albert Einstein, S\u00e3o Paulo 05652-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1097\/HEP.0000000000000520","article-title":"Reply: A multi-society Delphi consensus statement on new fatty liver disease nomenclature","volume":"78","author":"Rinella","year":"2023","journal-title":"Hepatology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/hepr.14004","article-title":"New concept in fatty liver diseases. 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