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.
The HLA-DQβ1 insertion is a strong Achalasia risk factor and displays a geospatial north-south gradient among Europeans (2016) , 24 (8), pp. 1228-1231 / Becker, J., Haas, S.l., Mokrowiecka, A., Wasielica-Berger, J., Ateeb, Z., Bister, J., Elbe, P., Kowalski, M., Gawron-Kiszka, M., Majewski, M., Mulak, A., Janiak, M., Wouters, M.m., Schw'Mmle, T., Hess, T., Veits, L., Niebisch, S., Santiago, J.l., De León, A.r., De la Serna, J.p., et al.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 24:8(2016), pp. 1228-1231. [doi: 10.1038/ejhg.2015.262]
The HLA-DQβ1 insertion is a strong Achalasia risk factor and displays a geospatial north-south gradient among Europeans (2016) , 24 (8), pp. 1228-1231.
Laghi L;
2016-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
