{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:43:15Z","timestamp":1792194195365,"version":"4.4.0"},"reference-count":67,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,9]],"date-time":"2022-12-09T00:00:00Z","timestamp":1670544000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Metabolites"],"abstract":"<jats:p>Non-alcoholic fatty liver disease (NAFLD) is one of the most common liver diseases, along with steatosis and non-alcoholic steatohepatitis (NASH), and is associated with cirrhosis and hepatocellular carcinoma. Candidate gene and genome-wide association studies have validated the relationships between NAFLD, NASH, PNPLA3, TM6SF2, and HFE. The present study utilized five polymorphisms in three genes: PNPLA3 (I148M and K434E) TM6SF2 (E167K), and HFE (H63D and C282Y), based on undocumented case\u2013control studies in the Saudi Arabian population. A total of 95 patients with NAFLD and 78 non-NAFLD subjects were recruited. Genomic DNA was isolated, and polymerase chain reaction and Sanger sequencing were performed using specific primers for the I148M, K434E, E167K, H63D, and C282Y. NAFLD subjects were older when compared to controls and showed the significant association (p = 0.0001). Non-significant association was found between gender (p = 0.26). However, both weight and BMI were found to be associated. Hardy\u2013Weinberg equilibrium analysis confirmed that H63D, I148M, and K434E polymorphisms were associated. Genotype analysis showed only K434E variant was associated with NAFLD and non-NAFLD (OR-2.16; 95% CI: 1.08\u20134.31; p = 0.02). However, other polymorphisms performed with NAFLD and NASH were not associated (p &gt; 0.05), and similar analysis was found when ANOVA was performed (p &gt; 0.05). In conclusion, we confirmed that K434E polymorphism showed a positive association in the Saudi population.<\/jats:p>","DOI":"10.3390\/metabo12121240","type":"journal-article","created":{"date-parts":[[2022,12,9]],"date-time":"2022-12-09T04:46:46Z","timestamp":1670561206000},"page":"1240","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study"],"prefix":"10.3390","volume":"12","author":[{"given":"Faisal","family":"Alsaif","sequence":"first","affiliation":[{"name":"Surgery Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"},{"name":"Molecular Genetic Pathology Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waleed","family":"Al-hamoudi","sequence":"additional","affiliation":[{"name":"Molecular Genetic Pathology Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"},{"name":"Medicine Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maram","family":"Alotaiby","sequence":"additional","affiliation":[{"name":"Molecular Genetic Pathology Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"},{"name":"Laboratories and Blood Bank Services Ministry of Health, Riyadh 12746, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amani","family":"Alsadoon","sequence":"additional","affiliation":[{"name":"Liver Disease Research Center, King Saud University Medical City, Riyadh 12746, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Almayouf","sequence":"additional","affiliation":[{"name":"Surgery Department, College of Medicine, Prince Sattam bin Abdulaziz University, Riyadh 11942, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadeel","family":"Almadany","sequence":"additional","affiliation":[{"name":"Surgery Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1822-063X","authenticated-orcid":false,"given":"Jawahir","family":"Abuhaimed","sequence":"additional","affiliation":[{"name":"College of Medicine, Al-Faisal University, Riyadh P.O. Box 400, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noman","family":"Ghufran","sequence":"additional","affiliation":[{"name":"Molecular Genetic Pathology Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Merajuddin","sequence":"additional","affiliation":[{"name":"Molecular Genetic Pathology Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia"},{"name":"Research and Development Unit, Adela Inc. 610, University of Avenue, Toronto, ON M5G 2R5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9746-5300","authenticated-orcid":false,"given":"Imran","family":"Ali Khan","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 12372, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/hep.31420","article-title":"From NAFLD to MAFLD: Implications of a premature change in terminology","volume":"73","author":"Younossi","year":"2021","journal-title":"Hepatology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e25893","DOI":"10.1097\/MD.0000000000025893","article-title":"The influence of RS738409 I148M polymorphism of patatin-like phospholipase domain containing 3 gene on the susceptibility of non-alcoholic fatty liver disease","volume":"100","author":"Akkiz","year":"2021","journal-title":"Medicine"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"d3897","DOI":"10.1136\/bmj.d3897","article-title":"How big a problem is non-alcoholic fatty liver disease?","volume":"343","author":"Anstee","year":"2011","journal-title":"BMJ"},{"key":"ref_4","first-page":"317","article-title":"The story of HCC in NAFLD: From epidemiology, across pathogenesis, to prevention and treatment","volume":"36","author":"Margini","year":"2016","journal-title":"Liver Int. 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