Significance of the influence of patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 polymorphism on non alcoholic fatty liver disease

Document Type : Original Clinical

Authors

1 Gastroenterology and Hepatology Unit, Department of Internal Medicine, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.

2 Department of General Surgery, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.

3 Departments of Clinical Pathology-Hematology and Genetics and Molecular Biology, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt.

4 Department of Internal Medicine, El Sahel Teaching Hospital, Cairo 11697, Egypt.

5 Department of Tropical Medicine, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.

Abstract

Background: Non-alcoholic fatty liver disease (NAFLD) is characterized by diffuse hepatocyte steatosis. The pathogenesis of NAFLD is not recognized. It has become apparent that genetic, environmental, and metabolic factors drive NAFLD. Moreover, earlier studies have observed that some polymorphisms raise the likelihood of NAFLD. Among these, the most robustly observed was the relationship between NAFLD risk and patatin-like phospholipase domain-containing 3 (PNPLA3). Aim: We aimed to assess the effect of the rs738409 polymorphism of the PNPLA3 gene (encoding I148m) on NAFLD. Patients and Methods: This study, which included 30 participants, was conducted with meticulous attention to detail and thoroughness: 20 patients with NAFLD and ten healthy participants as a control group. Participants were diagnosed according to a liver biopsy taken during surgery from patients who were candidates for bariatric surgery and as part of a predonation assessment for candidates for donation in liver transplantation. Genotyping of the PNPLA3 gene variant (rs738409 C/G) was assessed using the TaqMan assay quantitative polymerase chain reaction in blood cells. Results: Considering the distribution of the PNPLA3 gene variant (rs738409 C/G), a greater prevalence of heterozygous rs738409 CG and homozygous rs738409 GG variants occurred in the NAFLD patients in contrast to the control group (p = 0.048). In addition, NAFLD patients with the homozygous GG variant had a higher incidence of hepatic fibrosis (p = 0.018). Furthermore, PNPLA3 gene polymorphism significantly predicted hepatic steatosis and fibrosis in NAFLD patients (p = 0.033 and p < 0.001, respectively). Conclusion: The PNPLA3 rs738409 polymorphism is significantly associated with the susceptibility and severity of non-alcoholic fatty liver disease. 

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Footnotes. The peer reviewers were Amr Shaban Hanafy (professor of internal medicine, gastroenterology, hepatology unit), Marwa Shabana (assistant professor of clinical pathology), and Amany Mohamed (Assistant professor of family medicine). E- Editor: Salem Youssef Mohamed, Osama Ahmed Khalil, Amany Mohammed. Copyright ©. This open-access article is distributed under the Creative Commons Attribution License (CC BY). It may be used, distributed, or reproduced in other forums, provided the original author(s) and the copyright owner(s) are credited. The original publication in this journal must be cited according to accepted academic practice. Disclaimer: The authors' claims in this article are solely their own and do not necessarily represent their affiliated organizations or those of the publisher, the editors, and the reviewers. Any product evaluated in this article or its manufacturer's claim is not guaranteed or endorsed by the publisher. Ethical approval: All procedures involving human participants followed the institutional and national research committee's moral standards, the 1964 Helsinki Declaration, and its later amendments or comparable ethical standards. All authors declare that consent was obtained from the patients (or other approved parties) to publish this study. The Clinical Research Ethics Committee of the Faculty of Medicine, Ain Shams University (FMASU MD 284/2018) authorized the study protocol. All contributors signed a written informed agreement. Data and materials availability: The datasets used or analyzed during the current study are available from the corresponding author upon reasonable request. Competing interests: The authors declare that they have no competing interests. Funding: This study had no funding from any resource. This work was done according to the STROBE guidelines. Authors’ contributions Enas Mahmoud Foda and Shereen Abu Bakr Saleh conceived the research concept. At the same time, Moheb Shoraby Eskandaros, Nashwa Nagy El-Khazragy, and Heba Mohamed Abu Bakr conducted the clinical examinations and monitored the patients. Yasmin Mohamed Massoud and Ghada Abdelrahman Mohamed collaborated to gather laboratory data. All authors actively participated in analyzing and interpreting the patient information and composing the manuscript. All authors thoroughly reviewed and approved the final version of the manuscript.

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