{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T10:01:00Z","timestamp":1785492060814,"version":"3.56.0"},"reference-count":121,"publisher":"Akademiai Kiado Zrt.","issue":"47","license":[{"start":{"date-parts":[[2025,11,23]],"date-time":"2025-11-23T00:00:00Z","timestamp":1763856000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NKFI","award":["EK\u00d6P-24"],"award-info":[{"award-number":["EK\u00d6P-24"]}]}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2025,11,23]]},"abstract":"\n A nem alkoholos zs\u00edrm\u00e1jbetegs\u00e9g (NAFLD) \u2013 vagy \u00fajabb terminol\u00f3gia alapj\u00e1n\n metabolikus funkci\u00f3zavarhoz t\u00e1rsul\u00f3 steatoticus m\u00e1jbetegs\u00e9g (MASLD) \u2013 napjaink\n n\u00e9pbetegs\u00e9ge, amelynek kialakul\u00e1s\u00e1ban \u00e9s a spektrumbetegs\u00e9g s\u00falyosabb\n k\u00f3r\u00e1llapotainak megjelen\u00e9s\u00e9ben (steatoticus m\u00e1jgyullad\u00e1s, m\u00e1jfibrosis,\n m\u00e1jcirrhosis \u00e9s m\u00e1jr\u00e1k) kiemelkedik a\n PNPLA3,<\/jats:italic>\n egy egypontos,\n aminosavcser\u00e9vel (C>G) j\u00e1r\u00f3 g\u00e9nvari\u00e1ns szerepe, amelyet az elm\u00falt t\u00f6bb mint\n 20 \u00e9vben kiterjedten vizsg\u00e1ltak. Mind a klinikai, mind pedig a g\u00e9nterm\u00e9knek a\n k\u00f3r\u00e1llapot kialakul\u00e1s\u00e1ban bet\u00f6lt\u00f6tt szerep\u00e9r\u0151l sz\u00f3l\u00f3 ismeretanyag napr\u00f3l napra\n b\u0151v\u00fcl, ez\u00e1ltal egyre jobban meg\u00e9rthetj\u00fck a\n PNPLA3<\/jats:italic>\n g\u00e9nvari\u00e1nsoknak \u00e9s k\u00f3dolt feh\u00e9rjev\u00e1ltozataiknak az \u00e9lettani \u00e9s k\u00f3ros funkci\u00f3kban\n bet\u00f6lt\u00f6tt szerep\u00e9t. A\n PNPLA3<\/jats:italic>\n -genotipiz\u00e1l\u00e1s egyel\u0151re m\u00e9g nem\n r\u00e9sze sem a rutindiagnosztik\u00e1nak, sem a ter\u00e1pi\u00e1s d\u00f6nt\u00e9shozatalnak, a\n rendelkez\u00e9sre \u00e1ll\u00f3 kutat\u00e1si eredm\u00e9nyek \u00e9s a hat\u00e1snagys\u00e1g alapj\u00e1n azonban\n elk\u00e9pzelhet\u0151, hogy prognosztikai \u00e9s ter\u00e1pi\u00e1s strat\u00e9gi\u00e1kban t\u00f6rt\u00e9n\u0151\n felhaszn\u00e1l\u00e1s\u00e1ra sor ker\u00fclhet a j\u00f6v\u0151ben, els\u0151sorban a szem\u00e9lyre szabott medicina\n keretein bel\u00fcl. A k\u00f6zlem\u00e9ny c\u00e9lja a jelenleg rendelkez\u00e9sre \u00e1ll\u00f3 publik\u00e1lt\n eredm\u00e9nyek struktur\u00e1lt form\u00e1ban t\u00f6rt\u00e9n\u0151 \u00f6sszefoglal\u00e1sa, amely egyar\u00e1nt \u00e9rinti a\n funkcionalit\u00e1st, a m\u0171k\u00f6d\u00e9st, a klinikai konzekvenci\u00e1kat, a\n diagnosztikus\/progresszi\u00f3becsl\u0151 \u00e9s ter\u00e1pi\u00e1s lehet\u0151s\u00e9geket. Orv Hetil. 2025;\n 166(47): 1843\u20131856.\n <\/jats:p>","DOI":"10.1556\/650.2025.33421","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T12:22:40Z","timestamp":1763986960000},"page":"1843-1856","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["A PNPLA3 g\u00e9n rs738409 vari\u00e1ns\u00e1nak jelent\u0151s\u00e9ge metabolikus diszfunkci\u00f3hoz t\u00e1rsult steatoticus m\u00e1jbetegs\u00e9gben"],"prefix":"10.1556","volume":"166","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7016-6474","authenticated-orcid":true,"given":"\u00c1kos","family":"N\u00e1dasdi","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Transzl\u00e1ci\u00f3s Medicina Int\u00e9zet Budapest, T\u0171zolt\u00f3 u. 37\u201347., 1094 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9123-8131","authenticated-orcid":true,"given":"G\u00e1bor","family":"Firneisz","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Transzl\u00e1ci\u00f3s Medicina Int\u00e9zet Budapest, T\u0171zolt\u00f3 u. 37\u201347., 1094 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"R1","unstructured":"Firneisz G. Non-alcoholic fatty liver disease and type 2 diabetes\n mellitus: the liver disease of our age? World J Gastroenterol. 2014; 20:\n 9072-9089."},{"key":"R2","doi-asserted-by":"crossref","unstructured":"P\u00e1r G, Horv\u00e1th G, P\u00e1r A. Non-alcoholic fatty liver disease and\n steatohepatitis. [Nem alkoholos zs\u00edrm\u00e1j \u00e9s zs\u00edrm\u00e1jhepatitis.] Orv Hetil. 2013;\n 154: 1124-1134. [Hungarian]\n https:\/\/doi.org\/10.1556\/OH.2013.29626","DOI":"10.1556\/OH.2013.29626"},{"key":"R3","doi-asserted-by":"crossref","unstructured":"Tacke F, Horn P, Wong VW, et al. EASL-EASD-EASO clinical practice\n guidelines on the management of metabolic dysfunction-associated steatotic liver\n disease (MASLD). J Hepatol. 2024; 81: 492-542.\n https:\/\/doi.org\/10.1016\/j.jhep.2024.04.031","DOI":"10.1016\/j.jhep.2024.04.031"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Elsabaawy M, Naguib M, Abuamer A, et al. Comparative application of\n MAFLD and MASLD diagnostic criteria on NAFLD patients: insights from a\n single-center cohort. Clin Exp Med. 2025; 25: 36.\n https:\/\/doi.org\/10.1007\/s10238-024-01553-3","DOI":"10.1007\/s10238-024-01553-3"},{"key":"R5","doi-asserted-by":"crossref","unstructured":"Rao G, Peng X, Li X, et al. Unmasking the enigma of lipid metabolism\n in metabolic dysfunction-associated steatotic liver disease: from mechanism to\n the clinic. Front Med. 2023; 10: 1294267.\n https:\/\/doi.org\/10.3389\/fmed.2023.1294267","DOI":"10.3389\/fmed.2023.1294267"},{"key":"R6","doi-asserted-by":"crossref","unstructured":"P\u00e1r G. Non-invasive tests for evaluation of the severity and\n prognosis of liver diseases. [A m\u00e1jbetegs\u00e9gek s\u00falyoss\u00e1g\u00e1nak \u00e9s progn\u00f3zis\u00e1nak nem\n invaz\u00edv vizsg\u00e1l\u00f3m\u00f3dszerei.] Orv Hetil. 2023; 164: 847-858. [Hungarian]\n https:\/\/doi.org\/10.1556\/650.2023.32780","DOI":"10.1556\/650.2023.32780"},{"key":"R7","doi-asserted-by":"crossref","unstructured":"Wong VW-S, Ekstedt M, Wong GL-H, et al. Changing epidemiology,\n global trends and implications for outcomes of NAFLD. J Hepatology 2023; 79:\n 842-852. https:\/\/doi.org\/10.1016\/j.jhep.2023.04.036","DOI":"10.1016\/j.jhep.2023.04.036"},{"key":"R8","doi-asserted-by":"crossref","unstructured":"Gaggini M, Morelli M, Buzzigoli E, et al. Non-alcoholic fatty liver\n disease (NAFLD) and its connection with insulin resistance, dyslipidemia,\n atherosclerosis and coronary heart disease. Nutrients 2013; 5: 1544-1560.\n https:\/\/doi.org\/10.3390\/nu5051544","DOI":"10.3390\/nu5051544"},{"key":"R9","doi-asserted-by":"crossref","unstructured":"Kang YM, Jung CH, Cho YK, et al. Fatty liver disease determines the\n progression of coronary artery calcification in a metabolically healthy obese\n population. PLOS ONE 2017; 12: e0175762.\n https:\/\/doi.org\/10.1371\/journal.pone.0175762","DOI":"10.1371\/journal.pone.0175762"},{"key":"R10","doi-asserted-by":"crossref","unstructured":"Minhas AM, Usman MS, Khan MS, et al. Link between non-alcoholic\n fatty liver disease and atrial fibrillation: a systematic review and\n meta-analysis. Cureus 2017; 9: e1142.\n https:\/\/doi.org\/10.7759\/cureus.1142","DOI":"10.7759\/cureus.1142"},{"key":"R11","doi-asserted-by":"crossref","unstructured":"Kwak MS, Yim JY, Yi A, et al. Nonalcoholic fatty liver disease is\n associated with breast cancer in nonobese women. Dig Liver Dis. 2019; 51:\n 1030-1035. https:\/\/doi.org\/10.1016\/j.dld.2018.12.024","DOI":"10.1016\/j.dld.2018.12.024"},{"key":"R12","doi-asserted-by":"crossref","unstructured":"Angulo P. Nonalcoholic fatty liver disease. 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