Human Genetics

, Volume 128, Issue 4, pp 353–364

Achalasia: will genetic studies provide insights?

  • Henning R. Gockel
  • Johannes Schumacher
  • Ines Gockel
  • Hauke Lang
  • Thomas Haaf
  • Markus M. Nöthen
Review Article

DOI: 10.1007/s00439-010-0874-8

Cite this article as:
Gockel, H.R., Schumacher, J., Gockel, I. et al. Hum Genet (2010) 128: 353. doi:10.1007/s00439-010-0874-8
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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.

Supplementary material

439_2010_874_MOESM1_ESM.doc (198 kb)
Supplementary material 1 (DOC 198 kb)

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Henning R. Gockel
    • 1
  • Johannes Schumacher
    • 2
  • Ines Gockel
    • 1
  • Hauke Lang
    • 1
  • Thomas Haaf
    • 3
  • Markus M. Nöthen
    • 2
  1. 1.Department of General and Abdominal SurgeryJohannes Gutenberg UniversityMainzGermany
  2. 2.Institute of Human GeneticsUniversity of BonnBonnGermany
  3. 3.Institute of Human GeneticsUniversity of WürzburgWürzburgGermany