The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD
功能(生物学)
医学
遗传学
生物
作者
Miriam Daphne Rendel,Cecilia Vitali,Kate Townsend Creasy,David Zhang,Eleonora Scorletti,Helen J. Huang,Katharina Sophie Seeling,Joseph Park,Leonida Hehl,Mara Sophie Vell,Donna Conlon,Sikander Hayat,Michael C. Phillips,Kai Markus Schneider,Daniel J. Rader,Carolin V. Schneider
The ERLIN1 p.Ile291Val single-nucleotide polymorphism (rs2862954) is associated with protection from steatotic liver disease (SLD), but effects of this variant on metabolic phenotypes remain uncertain.