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Storr Bequest to the Sydney Medical Foundation, University of Sydney"},{"name":"National Health and Medical Research Council of Australia","award":["Program Grants (1053206 and 1149976) and Project grants (1107178 and 1108422)."],"award-info":[{"award-number":["Program Grants (1053206 and 1149976) and Project grants (1107178 and 1108422)."]}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020","doi-asserted-by":"crossref","award":["634413"],"award-info":[{"award-number":["634413"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Australian Government Research Training Program (RTP) scholarship"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Metabolic associated fatty liver disease (MAFLD) is the most prevalent liver disease in Western nations, with high heritability. A recent study of Japanese patients with the disease suggested that TLL1 rs17047200 is associated with fibrosis; whether a similar association is observed in Caucasian patients with MAFLD is unknown. We investigated the association of the <jats:italic>TLL1<\/jats:italic> rs17047200 polymorphism with liver fibrosis in a cohort of Caucasian patients with MAFLD (n = 728). We also investigated whether TLL1 expression is altered during liver injury in humans, in murine models of fibrosis, and in <jats:italic>in-vitro<\/jats:italic>. While TLL1 expression is upregulated in the liver of humans with MAFLD and in mice, the rs17047200 variant was not associated with fibrosis or any other histological features, or with hepatic TLL1 expression. In conclusion, the <jats:italic>TLL1<\/jats:italic> rs17047200 variant is not a risk variant for fibrosis in Caucasian patients with MAFLD. However, TLL1 could be involved in the pathogenesis of liver fibrosis.<\/jats:p>","DOI":"10.1371\/journal.pone.0243590","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T18:57:22Z","timestamp":1607713042000},"page":"e0243590","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease"],"prefix":"10.1371","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4939-1351","authenticated-orcid":true,"given":"Ali","family":"Bayoumi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Jalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayada","family":"Metwally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon A.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Aller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Garc\u00eda-Monz\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Teresa","family":"Arias-Loste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Miele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Petta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Crax\u00ec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Gallego-Dur\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janett","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Liddle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Bugianesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Romero-Gomez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"George","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Eslam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2020,12,11]]},"reference":[{"issue":"1","key":"pone.0243590.ref001","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.jhep.2020.03.039","article-title":"A new definition for metabolic dysfunction-associated fatty liver disease: An international expert consensus statement","volume":"73","author":"M Eslam","year":"2020","journal-title":"J Hepatol"},{"issue":"3","key":"pone.0243590.ref002","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1053\/j.gastro.2019.05.064","article-title":"Toward more accurate nomenclature for fatty liver diseases","volume":"157","author":"M Eslam","year":"2019","journal-title":"Gastroenterology"},{"key":"pone.0243590.ref003","article-title":"MAFLD: A consensus-driven proposed nomenclature for metabolic associated fatty liver disease","author":"M Eslam","year":"2020","journal-title":"Gastroenterology"},{"key":"pone.0243590.ref004","first-page":"1","article-title":"The Asian Pacific Association for the Study of the Liver clinical practice guidelines for the diagnosis and management of metabolic associated fatty liver disease","author":"M Eslam","year":"2020","journal-title":"Hepatology International"},{"key":"pone.0243590.ref005","first-page":"1669","article-title":"From NAFLD to MAFLD: a \u201credefining\u201d moment for fatty liver disease","volume":"2020","author":"KI Zheng","year":"2020","journal-title":"CMJ"},{"key":"pone.0243590.ref006","article-title":"Redefining fatty liver disease: an international patient perspective","author":"G Shiha","year":"2020","journal-title":"The Lancet Gastroenterology & Hepatology"},{"key":"pone.0243590.ref007","article-title":"What's in a name? 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