Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis
Taylor Petrucci, Sacha Guilhaumou, Takiy-Eddine Berrandou, Cortney Gensemer, Adrien B. Georges, Matthew L. Huff, Margaux‐Alison Fustier, Asraa Esmael, Joséphine Henry, Olivia Jaye, Ranan Phookan, Sarah A. Dooley, Kathryn Byerly, Brian Loizzi, Roman Fenner, , Russell A. Norris
This study identifies two genome-wide significant loci associated with hypermobile Ehlers-Danlos syndrome, implicating neuroimmune and pain signaling pathways and highlighting genetic correlations with multiple comorbid conditions.
medRxiv · Sep 19, 2025 · PreprintGenetic & Genomic Medicine