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Achalasia: will genetic studies provide insights?

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Abstract

Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.

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Acknowledgments

We thank Mr. Moritz Lesse for preparing the figures of this manuscript. This study was supported by the National Genomic Network of the “Bundesministerium für Bildung und Forschung” (BMBF), the NIH/DFG Research Career Transition Awards Program to JS, and the Alfried Krupp von Bohlen und Halbach-Stiftung to MMN.

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The authors have no competing interests to declare.

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Authors and Affiliations

  1. Department of General and Abdominal Surgery, Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany

    Henning R. Gockel, Ines Gockel & Hauke Lang

  2. Institute of Human Genetics, University of Bonn, Bonn, Germany

    Johannes Schumacher & Markus M. Nöthen

  3. Institute of Human Genetics, University of Würzburg, Würzburg, Germany

    Thomas Haaf

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  1. Henning R. Gockel
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  2. Johannes Schumacher
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  3. Ines Gockel
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Correspondence to Ines Gockel.

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H. R. Gockel and J. Schumacher (first authors) contributed equally to this work. T. Haaf and M. M. Nöthen (senior authors) contributed equally to this work.

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Gockel, H.R., Schumacher, J., Gockel, I. et al. Achalasia: will genetic studies provide insights?. Hum Genet 128, 353–364 (2010). https://doi.org/10.1007/s00439-010-0874-8

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