Becker J, Haas SL, Mokrowiecka A, Wasielica-Berger J, Ateeb Z, Bister J, Elbe P, Kowalski M, Gawron-Kiszka M, Majewski M, Mulak A, Janiak M, Wouters MM, Schw'mmle T, Hess T, Veits L, Niebisch S, Santiago JL, De León AR, De la Serna JP, Urcelay E, Annese V, Latiano A, Fumagalli U, Rosati R, Laghi L, Cuomo R, Lenze F, Sarnelli G, Müller M, Von Rahden BH, Wijmenga C, Lang H, Czene K, Hall P, De Bakker PI, Vieth M, Nöthen MM, Schulz HG, Adrych K, Gasiorowska A, Paradowski L, Wallner G, Boeckxstaens GE, Gockel I, Hartleb M, Kostic S, Dziurkowska-Marek A, Lindblad M, Nilsson M, Knapp M, Thorell A, Marek T, Dabrowski A, Małecka-Panas E, Schumacher J (2016)
Publication Type: Journal article
Publication year: 2016
Book Volume: 24
Pages Range: 1228-1231
Journal Issue: 8
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 P combined =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.
APA:
Becker, J., Haas, S.L., Mokrowiecka, A., Wasielica-Berger, J., Ateeb, Z., Bister, J.,... Schumacher, J. (2016). The HLA-DQβ1 insertion is a strong Achalasia risk factor and displays a geospatial north-south gradient among Europeans. European Journal of Human Genetics, 24(8), 1228-1231. https://doi.org/10.1038/ejhg.2015.262
MLA:
Becker, Jessica, et al. "The HLA-DQβ1 insertion is a strong Achalasia risk factor and displays a geospatial north-south gradient among Europeans." European Journal of Human Genetics 24.8 (2016): 1228-1231.
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