First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.
Grover S, Gockel I, Latiano A, Mokrowiecka A, Dasmeh P, Wouters MM, Vackova Z, Haas SL, Triantafyllou T, Kreuser N, Trautmann J, Niebisch S, Hess T, Thieme R, Bigge J, Louis H, Quertinmont E, Meirhaeghe A, Muntaner M, Amouyel P, Gourcerol G, Bruley des Varannes S, Mion F, Vieth M, Scarmeas N, Palmieri O, Tavano F, De Giorgio R, Galimberti D, Arighi A, Arosio B, Bruno M, Wasielica-Berger J, Gawron-Kiszka M, Janiak M, Siepsiak M, Adrych K, Marek T, Dabrowski A, Majewski M, Gietka P, Gonciarz M, Pérez de la Serna J, Martínez LZ, Giedraitis V, Kilander L, Fratiglioni L, Real LM, Spicak J, Tack J, Heilmann-Heimbach S, Nöthen M, Ingelsson M, Graff C, Ruiz A, Lambert JC, Ramirez A, Eckardt AJ, Müller M, Knapp M, Wissinowski TT, Keller J, Bruns CJ, Gerges C, Neuhaus H, Rösch T, Siegmund B, Schumacher B, Venerito M, Ruiz de León A, Rosati R, Annese V, Fumagalli U, Laghi L, Urcelay E, Vavasseur F, Roman S, Zhou P, Li Q, Liu Z, Rahden BHAV, Theodorou D, Malecka-Wojciesko E, Maj C, Vigo AG, Martinek J, Boeckxstaens G, Schumacher J.
Grover S, et al.
Gut. 2025 Nov 12;75(3):e334498. doi: 10.1136/gutjnl-2024-334498. Online ahead of print.
Gut. 2025.
PMID: 41136183
Free PMC article.
In addition, IA shows a shared aetiopathology with Crohn's disease (r(g)=0.335). Integrating GWAS and single-cell RNA-sequencing data from the myenteric plexus showed that the memory T-cell type FOS(+)Tc4(+)CD8(+) plays a central role in IA development (p=2.50 10(-19)). .. …
In addition, IA shows a shared aetiopathology with Crohn's disease (r(g)=0.335). Integrating GWAS and single-cell RNA-sequencing data …