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Title: The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans
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
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
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 #
Issue Date: Aug-2016
Publisher: Nature Publishing Group
Series Title: European Journal of Human Genetics vol:24 issue:8
Article number: 10.1038/ejhg.2015.262
Abstract: 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 achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations.European Journal of Human Genetics advance online publication, 6 January 2016; doi:10.1038/ejhg.2015.262.
URI: 
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Research in GastroIntestinal Disorders
× corresponding author
# (joint) last author

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