Article
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia.
Nature genetics - 1 Aug 2014
Gockel Ines, Becker Jessica, Wouters Mira M, Niebisch Stefan, Gockel Henning R, Hess Timo, Ramonet David, Zimmermann Julian, Vigo Ana González, Trynka Gosia, de León Antonio Ruiz, de la Serna Julio Pérez, Urcelay Elena, Kumar Vinod, Franke Lude, Westra Harm-Jan, Drescher Daniel, Kneist Werner, Marquardt Jens U, Galle Peter R, Mattheisen Manuel, Annese Vito, Latiano Anna, Fumagalli Uberto, Laghi Luigi, Cuomo Rosario, Sarnelli Giovanni, Müller Michaela, Eckardt Alexander J, Tack Jan, Hoffmann Per, Herms Stefan, Mangold Elisabeth, Heilmann Stefanie, Kiesslich Ralf, von Rahden Burkhard H A, Allescher Hans-Dieter, Schulz Henning G, Wijmenga Cisca, Heneka Michael T, Lang Hauke, Hopfner Karl-Peter, Nöthen Markus M, Boeckxstaens Guy E, de Bakker Paul I W, Knapp Michael, Schumacher Johannes
Abstract excerpt
Idiopathic achalasia is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. This ultimately leads to massive dilatation and an irreversibly impaired megaesophagus. We performed a genetic association study in 1,068 achalasia cases and 4,242 controls and fine-mapped a strong MHC association signal by imputing classical HLA haplotypes and amino acid...
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