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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Oct 27, 2020; 12(10): 792-806
Published online Oct 27, 2020. doi: 10.4254/wjh.v12.i10.792
Published online Oct 27, 2020. doi: 10.4254/wjh.v12.i10.792
PNPLA3 and TM6SF2 polymorphisms in Brazilian patients with nonalcoholic fatty liver disease
Quelson Coelho Lisboa, Mateus Jorge Nardelli, Patrícia de Araújo Pereira, Débora Marques Miranda, Stephanie Nunes Ribeiro, Raissa Soares Neves Costa, Camila Azevedo Versiani, Paula Vieira Teixeira Vidigal, Teresa Cristina de Abreu Ferrari, Claudia Alves Couto, Departament de Clínica Médica, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil
Author contributions: Lisboa QC, Pereira PA, Miranda DM, Ferrari TCA, and Couto CA planned and designed the study; Lisboa QC, Nardelli MJ, Pereira PA, Miranda DM, Ribeiro SN, Versiani CA, Costa RSN, Ferrari TCA, and Couto CA participated in the acquisition, analysis, and interpretation of the data; Lisboa QC, Nardelli MJ, Ferrari TCA, and Couto CA drafted the manuscript; all authors revised and approved the final draft of the manuscript submitted.
Supported by Fundação de Amparo à Pesquisa do Estado de Minas Gerais , No. APQ-02233-14 .
Institutional review board statement: The study was approved by the ethics committee of Hospital das Clínicas da Universidade Federal de Minas Gerais (Belo Horizonte, Brazil).
Informed consent statement: All patients gave informed consent.
Conflict-of-interest statement: No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article.
Data sharing statement: Technical appendix, statistical code, and dataset available from the corresponding authors at clalcouto@gmail.com .
STROBE statement: The authors have read the STROBE Statement – checklist of items, and the manuscript was prepared and revised according to the STROBE Statement.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Claudia Alves Couto, MD, PhD, Associate Professor, Departament de Clínica Médica, Faculty of Medicine, Universidade Federal de Minas Gerais, Avenida Professor Alfredo Balena 190, Belo Horizonte 30130100, Brazil. clalcouto@gmail.com
Received: April 29, 2020
Peer-review started: April 30, 2020
First decision: May 24, 2020
Revised: May 28, 2020
Accepted: September 2, 2020
Article in press: September 2, 2020
Published online: October 27, 2020
Peer-review started: April 30, 2020
First decision: May 24, 2020
Revised: May 28, 2020
Accepted: September 2, 2020
Article in press: September 2, 2020
Published online: October 27, 2020
Core Tip
Core Tip: The rs738409 C/G mutation in the PNPLA3 gene may be involved in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) in the Brazilian population. We found an association between this polymorphism and higher susceptibility to NAFLD occurrence, disease progression to nonalcoholic steatohepatitis, more severe histological activity scores and the presence of liver fibrosis. The TM6SF2 gene variants were also evaluated in the Brazilian population, although they were not associated with NAFLD susceptibility and different histological forms.