Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach

Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach

Background & Aim: An unbiased genome-first approach can expand the molecular understanding of specific genes in disease-agnostic biobanks for deeper phenotyping. TM6SF2 represents a good candidate for this approach due to its known association with steatotic liver disease (SLD). Methods: We...

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Bibliographic Details
Main Authors: Helen Ye Rim Huang, Cecilia Vitali, David Zhang, Nicholas J. Hand, Michael C. Phillips, Kate Townsend Creasy, Eleonora Scorletti, Joseph Park, Regeneron Centre, Kai Markus Schneider, Daniel J. Rader, Carolin Victoria Schneider
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:JHEP Reports
Subjects:
TM6SF2
MASLD
MASH
HCC
Lipid metabolism
Genome-first
Online Access:http://www.sciencedirect.com/science/article/pii/S2589555924002477

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http://www.sciencedirect.com/science/article/pii/S2589555924002477

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