{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T19:03:21Z","timestamp":1792609401097,"version":"4.5.0"},"reference-count":74,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T00:00:00Z","timestamp":1608163200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003197","name":"Agenzia Italiana del Farmaco, Ministero della Salute","doi-asserted-by":"publisher","award":["RF-2016-02364358"],"award-info":[{"award-number":["RF-2016-02364358"]}],"id":[{"id":"10.13039\/501100003197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003793","name":"Hj\u00e4rt-Lungfonden","doi-asserted-by":"publisher","award":["20120533"],"award-info":[{"award-number":["20120533"]}],"id":[{"id":"10.13039\/501100003793","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004063","name":"Knut och Alice Wallenbergs Stiftelse","doi-asserted-by":"publisher","award":["KAW 2017.0203"],"award-info":[{"award-number":["KAW 2017.0203"]}],"id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013500","name":"Diabetestutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013500","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["777377"],"award-info":[{"award-number":["777377"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["138006"],"award-info":[{"award-number":["138006"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004319","name":"Pfizer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009702","name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","doi-asserted-by":"publisher","award":["PR-0391"],"award-info":[{"award-number":["PR-0391"]}],"id":[{"id":"10.13039\/501100009702","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005564","name":"Gilead Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005564","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009804","name":"Svenska Diabetesstiftelsen","doi-asserted-by":"publisher","award":["DIA 2017-205"],"award-info":[{"award-number":["DIA 2017-205"]}],"id":[{"id":"10.13039\/501100009804","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006483","name":"AbbVie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006483","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004191","name":"Novo Nordisk","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004191","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2016-01527"],"award-info":[{"award-number":["2016-01527"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["16888"],"award-info":[{"award-number":["16888"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","gastrojournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gastroenterology"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1053\/j.gastro.2020.12.023","type":"journal-article","created":{"date-parts":[[2021,2,7]],"date-time":"2021-02-07T10:18:00Z","timestamp":1612693080000},"page":"1634-1646.e7","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":145,"title":["Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease"],"prefix":"10.1053","volume":"160","author":[{"given":"Oveis","family":"Jamialahmadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosellina Margherita","family":"Mancina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Ciociola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Tavaglione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panu K.","family":"Luukkonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Baselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Malvestiti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Thuillier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violeta","family":"Raverdy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ville","family":"M\u00e4nnist\u00f6","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaria Maria","family":"Pipitone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Pennisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Prati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Spagnuolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Petta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jussi","family":"Pihlajam\u00e4ki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Pattou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannele","family":"Yki-J\u00e4rvinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8909-0345","authenticated-orcid":false,"given":"Luca","family":"Valenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.gastro.2020.12.023_bib1","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/j.jhep.2018.05.036","article-title":"Modeling NAFLD disease burden in China, France, Germany, Italy, Japan, Spain, United Kingdom, and United States for the period 2016-2030","volume":"69","author":"Estes","year":"2018","journal-title":"J\u00a0Hepatol"},{"key":"10.1053\/j.gastro.2020.12.023_bib2","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1016\/j.jhep.2020.02.020","article-title":"Update on NAFLD genetics: from new variants to the clinic","volume":"72","author":"Trepo","year":"2020","journal-title":"J\u00a0Hepatol"},{"key":"10.1053\/j.gastro.2020.12.023_bib3","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1038\/ng.257","article-title":"Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease","volume":"40","author":"Romeo","year":"2008","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib4","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/ng.2901","article-title":"Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease","volume":"46","author":"Kozlitina","year":"2014","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001324","article-title":"Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits","volume":"7","author":"Speliotes","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib6","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1053\/j.gastro.2016.01.032","article-title":"The MBOAT7-TMC4 variant rs641738 Increases risk of nonalcoholic fatty liver disease in individuals of European descent","volume":"150","author":"Mancina","year":"2016","journal-title":"Gastroenterology"},{"key":"10.1053\/j.gastro.2020.12.023_bib7","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.jhep.2020.04.003","article-title":"Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort","volume":"73","author":"Anstee","year":"2020","journal-title":"J\u00a0Hepatol"},{"key":"10.1053\/j.gastro.2020.12.023_bib8","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1056\/NEJMoa1712191","article-title":"A\u00a0protein-truncating HSD17B13 variant and protection from chronic liver disease","volume":"378","author":"Abul-Husn","year":"2018","journal-title":"N\u00a0Engl J Med"},{"key":"10.1053\/j.gastro.2020.12.023_bib9","article-title":"A\u00a0missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease","volume":"16","author":"Prill","year":"2020","journal-title":"PLoS Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib10","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.cmet.2019.12.002","article-title":"Leveraging human genetics to identify potential new treatments for fatty liver disease","volume":"31","author":"Romeo","year":"2020","journal-title":"Cell Metab"},{"key":"10.1053\/j.gastro.2020.12.023_bib11","doi-asserted-by":"crossref","first-page":"11585","DOI":"10.1038\/s41598-019-47737-w","article-title":"The TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroids","volume":"9","author":"Prill","year":"2019","journal-title":"Sci Rep"},{"key":"10.1053\/j.gastro.2020.12.023_bib12","doi-asserted-by":"crossref","first-page":"102658","DOI":"10.1016\/j.ebiom.2020.102658","article-title":"Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes","volume":"52","author":"Meroni","year":"2020","journal-title":"EBioMedicine"},{"key":"10.1053\/j.gastro.2020.12.023_bib13","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/gutjnl-2020-320646","article-title":"LPIAT1\/MBOAT7 depletion increases triglyceride synthesis fueled by high phosphatidylinositol turnover","volume":"70","author":"Tanaka","year":"2021","journal-title":"Gut"},{"key":"10.1053\/j.gastro.2020.12.023_bib14","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1038\/s41598-019-39998-2","article-title":"Rare pathogenic variants predispose to hepatocellular carcinoma in nonalcoholic fatty liver disease","volume":"9","author":"Pelusi","year":"2019","journal-title":"Sci Rep"},{"key":"10.1053\/j.gastro.2020.12.023_bib15","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/joim.12719","article-title":"Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver","volume":"283","author":"Dongiovanni","year":"2018","journal-title":"J\u00a0Intern Med"},{"key":"10.1053\/j.gastro.2020.12.023_bib16","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1001779","article-title":"UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age","volume":"12","author":"Sudlow","year":"2015","journal-title":"PLOS Medicine"},{"key":"10.1053\/j.gastro.2020.12.023_bib17","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/s41588-018-0248-z","article-title":"An atlas of genetic associations in UK Biobank","volume":"50","author":"Canela-Xandri","year":"2018","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib18","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/s41588-018-0327-1","article-title":"Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data","volume":"51","author":"Tachmazidou","year":"2019","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib19","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1002\/oby.22210","article-title":"Body composition profiling in the UK Biobank Imaging Study","volume":"26","author":"Linge","year":"2018","journal-title":"Obesity"},{"key":"10.1053\/j.gastro.2020.12.023_bib20","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1002\/oby.22510","article-title":"Sub-phenotyping metabolic disorders using body composition: an individualized, nonparametric approach utilizing large data sets","volume":"27","author":"Linge","year":"2019","journal-title":"Obesity"},{"key":"10.1053\/j.gastro.2020.12.023_bib21","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK Biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"10.1053\/j.gastro.2020.12.023_bib22","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A\u00a0program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1053\/j.gastro.2020.12.023_bib23","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol"},{"key":"10.1053\/j.gastro.2020.12.023_bib24","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0087523","article-title":"Glucokinase regulatory protein gene polymorphism affects liver fibrosis in non-alcoholic fatty liver disease","volume":"9","author":"Petta","year":"2014","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2020.12.023_bib25","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1002\/hep.26342","article-title":"Desmosterol in human nonalcoholic steatohepatitis","volume":"58","author":"Simonen","year":"2013","journal-title":"Hepatology"},{"key":"10.1053\/j.gastro.2020.12.023_bib26","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1016\/j.jhep.2016.01.002","article-title":"Hepatic ceramides dissociate steatosis and insulin resistance in patients with non-alcoholic fatty liver disease","volume":"64","author":"Luukkonen","year":"2016","journal-title":"J\u00a0Hepatol"},{"key":"10.1053\/j.gastro.2020.12.023_bib27","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1038\/ng.3190","article-title":"Efficient Bayesian mixed-model analysis increases association power in large cohorts","volume":"47","author":"Loh","year":"2015","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib28","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/s41588-018-0144-6","article-title":"Mixed-model association for biobank-scale datasets","volume":"50","author":"Loh","year":"2018","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib29","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1038\/s41588-018-0184-y","article-title":"Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies","volume":"50","author":"Zhou","year":"2018","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib30","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"GigaScience"},{"key":"10.1053\/j.gastro.2020.12.023_bib31","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng.2213","article-title":"Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits","volume":"44","author":"Yang","year":"2012","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib32","doi-asserted-by":"crossref","first-page":"D1005","DOI":"10.1093\/nar\/gky1120","article-title":"The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019","volume":"47","author":"Buniello","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib33","doi-asserted-by":"crossref","first-page":"4851","DOI":"10.1093\/bioinformatics\/btz469","article-title":"PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations","volume":"35","author":"Kamat","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1053\/j.gastro.2020.12.023_bib34","doi-asserted-by":"crossref","first-page":"3207","DOI":"10.1093\/bioinformatics\/btw373","article-title":"PhenoScanner: a database of human genotype-phenotype associations","volume":"32","author":"Staley","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1053\/j.gastro.2020.12.023_bib35","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.34408","article-title":"The MR-Base platform supports systematic causal inference across the human phenome","volume":"7","author":"Hemani","year":"2018","journal-title":"Elife"},{"key":"10.1053\/j.gastro.2020.12.023_bib36","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1002\/hep.20701","article-title":"Design and validation of a histological scoring system for nonalcoholic fatty liver disease","volume":"41","author":"Kleiner","year":"2005","journal-title":"Hepatology"},{"key":"10.1053\/j.gastro.2020.12.023_bib37","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1186\/1471-2105-14-128","article-title":"Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool","volume":"14","author":"Chen","year":"2013","journal-title":"BMC Bioinformatics"},{"key":"10.1053\/j.gastro.2020.12.023_bib38","doi-asserted-by":"crossref","first-page":"W90","DOI":"10.1093\/nar\/gkw377","article-title":"Enrichr: a comprehensive gene set enrichment analysis web server 2016 update","volume":"44","author":"Kuleshov","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib39","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/s41467-018-03751-6","article-title":"Massive mining of publicly available RNA-seq data from human and mouse","volume":"9","author":"Lachmann","year":"2018","journal-title":"Nat Commun"},{"key":"10.1053\/j.gastro.2020.12.023_bib40","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","year":"2013","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib41","doi-asserted-by":"crossref","first-page":"D833","DOI":"10.1093\/nar\/gkw943","article-title":"DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants","volume":"45","author":"Pi\u00f1ero","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib42","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1002\/pro.3715","article-title":"Toward understanding the origin and evolution of cellular organisms","volume":"28","author":"Kanehisa","year":"2019","journal-title":"Protein Sci"},{"key":"10.1053\/j.gastro.2020.12.023_bib43","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/ng.3211","article-title":"LD Score regression distinguishes confounding from polygenicity in genome-wide association studies","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib44","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1038\/ng.3954","article-title":"Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection","volume":"49","author":"Gazal","year":"2017","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib45","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1038\/ng.3404","article-title":"Partitioning heritability by functional annotation using genome-wide association summary statistics","volume":"47","author":"Finucane","year":"2015","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib46","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1136\/gutjnl-2019-319226","article-title":"Liver transcriptomics highlights interleukin-32 as novel NAFLD-related cytokine and candidate biomarker","volume":"9","author":"Baselli","year":"2020","journal-title":"Gut"},{"key":"10.1053\/j.gastro.2020.12.023_bib47","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1186\/1471-2105-12-323","article-title":"RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome","volume":"12","author":"Li","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1053\/j.gastro.2020.12.023_bib48","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol"},{"key":"10.1053\/j.gastro.2020.12.023_bib49","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1053\/j.gastro.2020.12.023_bib50","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cels.2015.12.004","article-title":"The Molecular Signatures Database (MSigDB) hallmark gene set collection","volume":"1","author":"Liberzon","year":"2015","journal-title":"Cell Syst"},{"key":"10.1053\/j.gastro.2020.12.023_bib51","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ajhg.2008.09.012","article-title":"Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes","volume":"83","author":"Yuan","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib52","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1074\/jbc.M605023200","article-title":"The liver X receptor (LXR) and hepatic lipogenesis. The carbohydrate-response element-binding protein is a target gene of LXR","volume":"282","author":"Cha","year":"2007","journal-title":"J\u00a0Biol Chem"},{"key":"10.1053\/j.gastro.2020.12.023_bib53","doi-asserted-by":"crossref","first-page":"2991","DOI":"10.1128\/MCB.21.9.2991-3000.2001","article-title":"Identification of liver X receptor-retinoid X receptor as an activator of the sterol regulatory element-binding protein 1c gene promoter","volume":"21","author":"Yoshikawa","year":"2001","journal-title":"Mol Cell Biol"},{"key":"10.1053\/j.gastro.2020.12.023_bib54","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.cmet.2005.06.006","article-title":"Prevention of hepatic steatosis and hepatic insulin resistance in mitochondrial acyl-CoA:glycerol-sn-3-phosphate acyltransferase 1 knockout mice","volume":"2","author":"Neschen","year":"2005","journal-title":"Cell Metab"},{"key":"10.1053\/j.gastro.2020.12.023_bib55","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1096\/fj.05-4568com","article-title":"Liver-directed overexpression of mitochondrial glycerol-3-phosphate acyltransferase results in hepatic steatosis, increased triacylglycerol secretion and reduced fatty acid oxidation","volume":"20","author":"Linden","year":"2006","journal-title":"FASEB J"},{"key":"10.1053\/j.gastro.2020.12.023_bib56","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/S0022-2275(20)38036-6","article-title":"Dynamics of apolipoprotein E metabolism in humans","volume":"23","author":"Blum","year":"1982","journal-title":"J\u00a0Lipid Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib57","doi-asserted-by":"crossref","first-page":"150","DOI":"10.3389\/fnagi.2020.00150","article-title":"APOE alleles and diet in brain aging and Alzheimer\u2019s disease","volume":"12","author":"Yassine","year":"2020","journal-title":"Front Aging Neurosci"},{"key":"10.1053\/j.gastro.2020.12.023_bib58","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.pathol.2018.11.002","article-title":"Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease","volume":"51","author":"Marais","year":"2019","journal-title":"Pathology"},{"key":"10.1053\/j.gastro.2020.12.023_bib59","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.ajhg.2016.07.019","article-title":"Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features","volume":"99","author":"Johansen","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib60","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1016\/j.ygeno.2020.07.008","article-title":"Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability","volume":"112","author":"Heidari","year":"2020","journal-title":"Genomics"},{"key":"10.1053\/j.gastro.2020.12.023_bib61","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.b.32762","article-title":"Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect","volume":"183","author":"Dursun","year":"2020","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib62","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/ng.801","article-title":"Common variants at MS4A4\/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer\u2019s disease","volume":"43","author":"Naj","year":"2011","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib63","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib64","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1053\/j.gastro.2020.12.023_bib65","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A\u00a0general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib66","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1093\/bioinformatics\/btu703","article-title":"DANN: a deep learning approach for annotating the pathogenicity of genetic variants","volume":"31","author":"Quang","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1053\/j.gastro.2020.12.023_bib67","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/humu.22225","article-title":"Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models","volume":"34","author":"Shihab","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1053\/j.gastro.2020.12.023_bib68","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"Chun","year":"2009","journal-title":"Genome Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib69","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddu733","article-title":"Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies","volume":"24","author":"Dong","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib70","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2020.12.023_bib71","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"10.1053\/j.gastro.2020.12.023_bib72","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2020.12.023_bib73","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.gastro.2020.12.023_bib74","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.22932","article-title":"dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs","volume":"37","author":"Liu","year":"2016","journal-title":"Hum Mutat"}],"container-title":["Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0016508520355621?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0016508520355621?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:49:52Z","timestamp":1762163392000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0016508520355621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":74,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["S0016508520355621"],"URL":"https:\/\/doi.org\/10.1053\/j.gastro.2020.12.023","relation":{},"ISSN":["0016-5085"],"issn-type":[{"value":"0016-5085","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease","name":"articletitle","label":"Article Title"},{"value":"Gastroenterology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.gastro.2020.12.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 by the AGA Institute. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}