Colocalization and functional analyses identify GBE1 as a gene linking muscle strength and cardiometabolic fitness

American Journal of Physiology-Endocrinology and Metabolism 2026 Open access

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Authors: Theresia Maria Schnurr, Miranda Lee Johnson, Christopher A. Jin, Kimmie V. Sørensen, Lindsey Kim, James W.S. Jahng, Amanda Ranta, Ewa Bielczyk-Maczyńska, Michael J. Gloudemans, Peter Saliba‐Gustafsson, Elena Vinton, Patrick Jurney
+5 more Ivan Carcamo‐Orive, Euan Angus Ashley, Torben Hansen, Joshua W. Knowles, Brian T. Palmisano
DOI: 10.1152/ajpendo.00470.2025
Cited by: 0
References: 52

Abstract

Colocalization of genome-wide association study (GWAS) loci with quantitative trait loci (QTL) in skeletal muscle tissue identified GBE1 as a candidate for handgrip strength. Cellular phenotypes with GBE1 knockdown in immortalized human skeletal muscle cells include decreased glycogen content, accumulation of polyglucosan bodies, changes in mitochondrial function and morphology, and increased expression of reactive oxygen species (ROS) scavengers. Transcriptomic changes suggest a role for GBE1 in muscle contraction and oxidative stress-mediated responses.

Fields of Study & Subjects

Genetics and Physical Performance Muscle Physiology and Disorders Genetic Associations and Epidemiology

Publication details

Journal / source
American Journal of Physiology-Endocrinology and Metabolism
Volume
330
Issue
3
Pages
E380–E389
Publication date
16 February 2026
Language
EN