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

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

Journal

Book Volume: 24

Pages Range: 1228-1231

Journal Issue: 8

DOI: 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 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.

Authors with CRIS profile

Involved external institutions

Universitätsklinikum Leipzig DE Germany (DE) Medical University Gdansk / Gdański Uniwersytet Medyczny PL Poland (PL) Medical University of Silesia in Katowice / Śląski Uniwersytet Medyczny w Katowicach (SUM) PL Poland (PL) Katholieke Universiteit Leuven (KUL) / Catholic University of Leuven BE Belgium (BE) Rheinische Friedrich-Wilhelms-Universität Bonn DE Germany (DE) Karolinska University Hospital / Karolinska Universitetssjukhuset SE Sweden (SE) Klinikum Bayreuth DE Germany (DE) Medical University of Łódź / Uniwersytet Medyczny w Łodzi PL Poland (PL) Medical University of Bialystok PL Poland (PL) Università degli Studi di Firenze / University of Florence IT Italy (IT) University of Groningen / Rijksuniversiteit Groningen NL Netherlands (NL) Johannes Gutenberg-Universität Mainz (JGU) DE Germany (DE) Medical University of Lublin / Uniwersytet Medyczny w Lublinie PL Poland (PL) Wrocław Medical University / Uniwersytet Medyczny we Wrocławiu PL Poland (PL) Hospital Clínico San Carlos ES Spain (ES) Casa Sollievo della Sofferenza IT Italy (IT) Humanitas Research Hospital / IRCCS Istituto Clinico Humanitas IT Italy (IT) Ospedale San Raffaele (früher: Centro San Raffaele del Monte Tabor Foundation) IT Italy (IT) Azienda Ospedaliera Universitaria Federico II IT Italy (IT) Universitätsklinikum Münster DE Germany (DE) HELIOS Kliniken DE Germany (DE) Julius-Maximilians-Universität Würzburg DE Germany (DE) Karolinska Institute SE Sweden (SE) University Medical Centre Utrecht (UMC Utrecht) NL Netherlands (NL) Ev. Krankenhaus Castrop-Rauxel DE Germany (DE) Danderyds sjukhus SE Sweden (SE)

How to cite

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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