Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women.

"rna-seq data that support the findings of the present study have been deposited at the gene expression omnibus under accession no gse239422 . source data we next identified at the transcriptome level a set of 1619 genes that were differentially regulated by the pnpla3 p i148m variant and female sex interaction (nominal p value < 0 05; supplementary data 1 ).; reporting summary supplementary data 1 list of genes differentially expressed in women carrying the pnpla3 p i148m variant."

"Competing interests The authors declare that they have no conflicts of interest relevant to the present study. L.V. has received speaking fees from MSD, Gilead, AlfaSigma and AbbVie, served as a consultant for Gilead, Pfizer, AstraZeneca, Novo Nordisk, Intercept, Diatech Pharmacogenetics, Ionis Pharmaceuticals, Boeringher Ingelheim and Resalis, and received research grants from Gilead. D.P. served as a consultant for, and has received speaking fees, travel grants and research grants from, Macopharma, Ortho Clinical Diagnostics, Grifols, Terumo, Immucor, Diamed and Diatech Pharmacogenetics."

"The study was funded by the following: Italian Ministry of Health (Ministero della Salute), Ricerca Finalizzata 2016, RF-2016-02364358 (‘Impact of whole exome sequencing on the clinical management of patients with advanced nonalcoholic fatty liver and cryptogenic liver disease’), Ricerca Finalizzata 2021 RF-2021-12373889, Italian Ministry of Health, Ricerca Finalizzata PNRR 2022 ‘RATIONAL: Risk strAtificaTIon Of Nonalcoholic fAtty Liver’ PNRR-MAD-2022-12375656 (L.V.); Italian Ministry of Health (Ministero della Salute), Rete Cardiologica ‘CV-PREVITAL’ (D.P. and L.V.); Italian Ministry of Health (Ministero della Salute), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Ricerca Corrente (L.V. and D.P.); Fondazione Patrimonio Ca’ Granda, ‘Liver BIBLE’ (PR-0361) (L.V.); Innovative Medicines Initiative 2 joint undertaking of the European Union’s (EU’s) Horizon 2020 research and innovation program and EFPIA EU program Horizon 2020 (under grant agreement no. 777377) for the project LITMUS (L.V.); the EU H2020-ICT-2018-20/H2020-ICT-2020-2 program ‘Photonics’ under grant agreement no. 101016726—REVEAL (L.V.); Gilead_IN-IT-989-5790 (L.V.). The EU, HORIZON-MISS-2021-CANCER-02-03 program ‘Genial’ under grant agreement no. ‘101096312’ (L.V.). Kuopio Obesity Surgery Study (P.I. and J.P.) was supported by the Finnish Diabetes Research Foundation, Kuopio University Hospital Project grant (EVO/VTR grant nos. 2005–2021) and the Academy of Finland grant (contract no. 138006 to J.P.). N.Y., A.T., S.C. are grateful to the Foundation for Liver Research for funding. We thank A. Taliento for contributing to the project initiation, R. Trotti for help in data retrieval, G. Lamorte for technical supervision of the POLI-MI biobank, and M. Sala, B. Nardi, C. Lucci and all the personnel of the Transfusion Medicine Unit for helping in the recruitment and clinical management of the study cohorts."