Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.

Fiche publication

Date publication

mai 2025

Journal

Hepatology research : the official journal of the Japan Society of Hepatology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BRONOWICKI Jean-Pierre , Pr GUEANT Jean-Louis , Pr NAMOUR Bernard , Pr OUSSALAH Abderrahim

Tous les auteurs :
Silva Rodriguez M, Mulot M, Chéry C, Bensenane M, Guéant-Rodriguez RM, Jaussaud R, Cobat A, Feillet F, Bronowicki JP, Namour F, Guéant JL, Oussalah A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40359317

Résumé

Although several SERPINA1 genetic variants have been reported for their pathogenicity to induce liver disorders through phenotype-driven approaches, data regarding genotype-driven approaches of the SERPINA1 locus remain unavailable. This study aimed to characterize the clinical and liver biological profiles of patients harboring nonbenign SERPINA1 variants.