Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic Achalasia

Becker J, Niebisch S, Ricchiuto A, Schaich EJ, Lehmann G, Waltgenbach T, Schafft A, Hess T, Lenze F, Venerito M, Hüneburg R, Lingohr P, Matthaei H, Seewald S, Scheuermann U, Kreuser N, Veits L, Wouters MM, Gockel HR, Lang H, Vieth M, Müller M, Eckardt AJ, Von Rahden BH, Knapp M, Boeckxstaens GE, Fimmers R, Nöthen MM, Schulz HG, Gockel I, Schumacher J (2016)

Publication Type: Journal article

Publication year: 2016

Journal

European Journal of Gastroenterology & Hepatology Lippincott, Williams & Wilkins

Book Volume: 28

Pages Range: 689-695

Journal Issue: 6

DOI: 10.1097/MEG.0000000000000602

Abstract

Background and aim Although an eight-residue insertion in HLA-DQβ1 has been recently identified as a genetic risk factor for idiopathic achalasia, other risk factors are still unknown. In the present study, we carried out an epidemiological survey and a genotype-phenotype (G×P) analysis to gain further insights into the etiology of achalasia. Methods We obtained medical data from 696 achalasia patients and 410 controls, as well as their first-degree relatives (2543 of patients and 1497 of controls). For the G×P analysis, we stratified the patients into HLA-DQβ1 insertion carriers and noncarriers. Results Our data show that patients are more often affected by viral infections before achalasia onset (P<0.0001, most significantly for varicella zoster virus infections). In addition, allergic (P=0.0005) and autoimmune disorders (P=0.0007, most significantly for psoriasis and Sjögren's syndrome) represent comorbid disease conditions. First-degree relatives of patients also show higher prevalence rates of allergic disorders (P=0.0007) and psoriasis (P=0.016) compared with control relatives. Moreover, the G×P analysis reveals that achalasia is triggered by pregnancies in female HLA-DQβ1 insertion carriers (P=0.031). Conclusion Our data point to a role of viral infections in the development of achalasia. In addition, they provide evidence for a relationship between achalasia and allergic, as well as autoimmune, disorders. Furthermore, pregnancy seems to be a disease-triggering factor in female HLA-DQβ1 insertion carriers, which points to hormonal and/or immunosuppressive factors influencing disease development.

Involved external institutions

Klinikum Bayreuth DE Germany (DE) Deutsche Klinik für Diagnostik DE Germany (DE) Julius-Maximilians-Universität Würzburg DE Germany (DE) Rheinische Friedrich-Wilhelms-Universität Bonn DE Germany (DE) Katholieke Universiteit Leuven (KUL) / Catholic University of Leuven BE Belgium (BE) Ev. Krankenhaus Castrop-Rauxel DE Germany (DE) Universitätsklinikum Leipzig DE Germany (DE) Johannes Gutenberg-Universität Mainz (JGU) DE Germany (DE) Universitätsklinikum Münster DE Germany (DE) Otto-von-Guericke-Universität Magdeburg DE Germany (DE) Hirslanden AG / Privatklinikgruppe Hirslanden CH Switzerland (CH)

How to cite

APA:

Becker, J., Niebisch, S., Ricchiuto, A., Schaich, E.J., Lehmann, G., Waltgenbach, T.,... Schumacher, J. (2016). Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic Achalasia. European Journal of Gastroenterology & Hepatology, 28(6), 689-695. https://doi.org/10.1097/MEG.0000000000000602

MLA:

Becker, Jessica, et al. "Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic Achalasia." European Journal of Gastroenterology & Hepatology 28.6 (2016): 689-695.

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