{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:34:23Z","timestamp":1787506463187,"version":"build-2736575974"},"reference-count":32,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T00:00:00Z","timestamp":1755475200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Scientific Research Projects Coordination Unit of Istanbul University","award":["TTU-2023-40066"],"award-info":[{"award-number":["TTU-2023-40066"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by the accumulation of fat in the liver, progressing from simple steatosis to various complications, with increasing prevalence in the modern world. Our study aimed to investigate the relationship between MASLD pathogenesis and the presence of apolipoprotein C-III (ApoC-III) gene variants rs2854116 and rs2854117 by comparing allele and genotype frequencies between MASLD patients and healthy individuals, as well as analyzing their association with biochemical parameters in Turkish populations. Materials and Methods: The study included 202 MASLD patients and 100 healthy controls who presented to our outpatient clinic. MASLD presence was determined by ultrasonography (USG). The demographic, laboratory, and clinical data of the participants were recorded. ApoC-III gene variants rs2854116 and rs2854117 were genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method from genomic DNA samples obtained from blood. Results: The genotype and allele frequencies of ApoC-III gene variants rs2854116 and rs2854117 did not show significant differences between patient and healthy groups (p &gt; 0.05). When biochemical parameters were evaluated, the LDH value of rs2854116 variant CT\/CC genotype carriers was found to be significantly higher than TT genotype carriers (p = 0.016). Conclusions: We observed a high prevalence of MASLD in our Turkish cohort. However, the specific genetic variants we investigated were not associated with MASLD status. This suggests that these variants may not be significant contributing factors to MASLD in this population.<\/jats:p>","DOI":"10.3390\/medicina61081479","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T11:31:37Z","timestamp":1755516697000},"page":"1479","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association of Apolipoprotein C-III Gene Polymorphisms (rs2854116 and rs2854117) with Susceptibility to Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in a Turkish Population"],"prefix":"10.3390","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6875-3303","authenticated-orcid":false,"given":"Damla","family":"Karaagac","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4085-7338","authenticated-orcid":false,"given":"Suat","family":"Morkuzu","sequence":"additional","affiliation":[{"name":"Department of Family Medicine, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naci","family":"Senkal","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5057-2651","authenticated-orcid":false,"given":"Ersel","family":"Bilgin","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1338-0087","authenticated-orcid":false,"given":"Yasemin","family":"Oyac\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tufan","family":"T\u00fckek","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacide","family":"Pehlivan","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3024-4036","authenticated-orcid":false,"given":"Alpay","family":"Medetalibeyoglu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, 34452 \u0130stanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.3350\/cmh.2022.0424","article-title":"Non-alcoholic fatty liver disease: Definition and subtypes","volume":"29","author":"Han","year":"2023","journal-title":"Clin. Mol. Hepatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/S2468-1253(22)00165-0","article-title":"The prevalence and incidence of NAFLD worldwide: A systematic review and meta-analysis","volume":"7","author":"Riazi","year":"2022","journal-title":"Lancet Gastroenterol. Hepatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"103043","DOI":"10.1016\/j.arcmed.2024.103043","article-title":"Global Prevalence of Nonalcoholic Fatty Liver Disease: An Updated Review Meta-Analysis comprising a Population of 78 million from 38 Countries","volume":"55","author":"Letafatkar","year":"2024","journal-title":"Arch. Med. Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1097\/HEP.0000000000000323","article-title":"AASLD Practice Guidance on the clinical assessment and management of nonalcoholic fatty liver disease","volume":"77","author":"Rinella","year":"2023","journal-title":"Hepatology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/hep.29466","article-title":"Modeling the epidemic of nonalcoholic fatty liver disease demonstrates an exponential increase in burden of disease","volume":"67","author":"Estes","year":"2018","journal-title":"Hepatology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"302","DOI":"10.5152\/tjg.2021.20062","article-title":"The Changing Prevalence of Non-Alcoholic Fatty Liver Disease (NAFLD) in Turkey in the Last Decade","volume":"32","author":"Demir","year":"2021","journal-title":"Turk. J. Gastroenterol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e168","DOI":"10.1161\/ATV.0000000000000153","article-title":"Nonalcoholic Fatty Liver Disease and Cardiovascular Risk: A Scientific Statement From the American Heart Association","volume":"42","author":"Duell","year":"2022","journal-title":"Arter. Thromb. Vasc. Biol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1056\/NEJMoa0907295","article-title":"Apolipoprotein C3 Gene Variants in Nonalcoholic Fatty Liver Disease","volume":"362","author":"Petersen","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1007\/s00125-005-1753-z","article-title":"Alterations of lipids and apolipoprotein CIII in very low density lipoprotein subspecies in type 2 diabetes","volume":"48","author":"Hiukka","year":"2005","journal-title":"Diabetologia"},{"key":"ref_10","first-page":"108","article-title":"Uncovering the role of apolipoprotein C-III in insulin resistance","volume":"33","author":"Palomer","year":"2021","journal-title":"Clin. Investig. Arter."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"132","DOI":"10.36011\/cpp.2022.4.e17","article-title":"The crosstalk between insulin resistance and nonalcoholic fatty liver disease\/metabolic dysfunction-associated fatty liver disease: A culprit or a consequence?","volume":"4","author":"Koo","year":"2022","journal-title":"Cardiovasc. Prev. Pharmacother."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"20","DOI":"10.2337\/dsi23-0013","article-title":"Role of Insulin Resistance in the Development of Nonalcoholic Fatty Liver Disease in People with Type 2 Diabetes: From Bench to Patient Care","volume":"37","author":"Nogueira","year":"2024","journal-title":"Diabetes Spectr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1097\/00041433-200406000-00002","article-title":"The role and mode of action of apolipoproteins CIII and AV: Synergistic actors in triglyceride metabolism?","volume":"15","author":"Rensen","year":"2004","journal-title":"Curr. Opin. Lipidol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2374","DOI":"10.1194\/jlr.M300253-JLR200","article-title":"Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease","volume":"44","author":"Olivieri","year":"2003","journal-title":"J. Lipid Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1194\/jlr.M200145-JLR200","article-title":"ApoC-III gene polymorphisms and risk of coronary artery disease","volume":"43","author":"Olivieri","year":"2002","journal-title":"J. Lipid Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1210\/jc.2004-1338","article-title":"Polymorphisms in the fatty acid-binding protein 2 and apolipoprotein C-III genes are associated with the metabolic syndrome and dyslipidemia in a South Indian population","volume":"90","author":"Guettier","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.arcmed.2006.10.013","article-title":"APOC3 promoter polymorphisms C-482T and T-455C are associated with the metabolic syndrome","volume":"38","author":"Miller","year":"2007","journal-title":"Arch. Med. Res."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1172\/JCI118324","article-title":"Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia","volume":"96","author":"Li","year":"1995","journal-title":"J. Clin. Investig."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1002\/hep.21178","article-title":"Development of a simple noninvasive index to predict significant fibrosis in patients with HIV\/HCV coinfection","volume":"43","author":"Sterling","year":"2006","journal-title":"Hepatology"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1002\/hep.21496","article-title":"The NAFLD fibrosis score: A noninvasive system that identifies liver fibrosis in patients with NAFLD","volume":"45","author":"Angulo","year":"2007","journal-title":"Hepatology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/BF00280883","article-title":"Homeostasis model assessment: Insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man","volume":"28","author":"Matthews","year":"1985","journal-title":"Diabetologia"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/0009-8981(57)90027-X","article-title":"An enzymic test for the diagnosis of viral hepatitis; the transaminase serum activities","volume":"2","author":"Coltorti","year":"1957","journal-title":"Clin. Chim. Acta"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/j.jhep.2009.09.001","article-title":"Validity of real time ultrasound in the diagnosis of hepatic steatosis: A prospective study","volume":"51","author":"Dasarathy","year":"2009","journal-title":"J. Hepatol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1148\/radiol.10091790","article-title":"Assessment of hepatic steatosis in patients undergoing liver resection: Comparison of US, CT, T1-weighted dual-echo MR imaging, and point-resolved 1H MR spectroscopy","volume":"256","author":"Marsman","year":"2010","journal-title":"Radiology"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/hep.24452","article-title":"Diagnostic accuracy and reliability of ultrasonography for the detection of fatty liver: A meta-analysis","volume":"54","author":"Hernaez","year":"2011","journal-title":"Hepatology"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Fu Df Chen, B. (2024). The relationship between the systemic immune inflammation index and the nonalcoholic fatty liver disease in American adolescents. BMC Gastroenterol., 24.","DOI":"10.1186\/s12876-024-03324-6"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1016\/j.cgh.2018.11.037","article-title":"Liver Fat Is Associated With Markers of Inflammation and Oxidative Stress in Analysis of Data From the Framingham Heart Study","volume":"17","author":"Fricker","year":"2019","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Duan, Y., Pan, X., Luo, J., Xiao, X., Li, J., Bestman, P.L., and Luo, M. (2022). Association of Inflammatory Cytokines With Non-Alcoholic Fatty Liver Disease. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.880298"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1016\/j.cgh.2020.09.039","article-title":"Association Between Lipoprotein Particles and Atherosclerotic Events in Nonalcoholic Fatty Liver Disease","volume":"19","author":"Patel","year":"2021","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1007\/s00125-017-4340-1","article-title":"Use of HOMA-IR to diagnose non-alcoholic fatty liver disease: A population-based and inter-laboratory study","volume":"60","author":"Isokuortti","year":"2017","journal-title":"Diabetologia"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.4314\/ahs.v20i4.34","article-title":"Association between APOC3 polymorphisms and non-alcoholic fatty liver disease risk: A meta-analysis","volume":"20","author":"Wang","year":"2020","journal-title":"Afr. Health Sci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"3655","DOI":"10.3748\/wjg.v20.i13.3655","article-title":"Lack of association between apolipoprotein C3 gene polymorphisms and risk of nonalcoholic fatty liver disease in a Chinese Han population","volume":"20","author":"Niu","year":"2014","journal-title":"World J. Gastroenterol."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/61\/8\/1479\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:29:50Z","timestamp":1760034590000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/61\/8\/1479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,18]]},"references-count":32,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["medicina61081479"],"URL":"https:\/\/doi.org\/10.3390\/medicina61081479","relation":{},"ISSN":["1648-9144"],"issn-type":[{"value":"1648-9144","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,18]]}}}