The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north–south gradient among Europeans

Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong...

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Published in:Eur J Hum Genet
Main Authors: Becker, Jessica, Haas, Stephan L, Mokrowiecka, Anna, Wasielica-Berger, Justyna, Ateeb, Zeeshan, Bister, Jonna, Elbe, Peter, Kowalski, Marek, Gawron-Kiszka, Magdalena, Majewski, Marek, Mulak, Agata, Janiak, Maria, Wouters, Mira M, Schwämmle, Till, Hess, Timo, Veits, Lothar, Niebisch, Stefan, Santiago, José L, de León, Antonio Ruiz, de la Serna, Julio Pérez, Urcelay, Elena, Annese, Vito, Latiano, Anna, Fumagalli, Uberto, Rosati, Riccardo, Laghi, Luigi, Cuomo, Rosario, Lenze, Frank, Sarnelli, Giovanni, Müller, Michaela, von Rahden, Burkhard HA, Wijmenga, Cisca, Lang, Hauke, Czene, Kamila, Hall, Per, de Bakker, Paul IW, Vieth, Michael, Nöthen, Markus M, Schulz, Henning G, Adrych, Krystian, Gąsiorowska, Anita, Paradowski, Leszek, Wallner, Grzegorz, Boeckxstaens, Guy E, Gockel, Ines, Hartleb, Marek, Kostic, Srdjan, Dziurkowska-Marek, Anna, Lindblad, Mats, Nilsson, Magnus, Knapp, Michael, Thorell, Anders, Marek, Tomasz, Dąbrowski, Andrzej, Małecka-Panas, Ewa, Schumacher, Johannes
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2016
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Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4970678/
https://ncbi.nlm.nih.gov/pubmed/26733285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.262
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