Genetic Test for Congenital Idiopathic Megaesophagus in German Shepherd Dogs


CHF Grant 02709: Identification of Genetic Risk Factors Contributing to Gastrointestinal Motility Disorders

Bell, S. M., Evans, J. M., Evans, K. M., Tsai, K. L., Noorai, R. E., Famula, T. R., Holle, D. M., & Clark, L. A. (2022). Congenital idiopathic megaesophagus in the German shepherd dog is a sex-differentiated trait and is associated with an intronic variable number tandem repeat in Melanin-Concentrating Hormone Receptor 2. PLOS Genetics, 18(3), e1010044.

What can we learn?
A genome-wide association study for canine idiopathic megaesophagus (CIM) in German Shepherd Dogs revealed an associated gene variant on canine chromosome 12. The gene in question plays a role in appetite, weight gain, and gastrointestinal motility. German Shepherd Dog males are affected by CIM almost twice as often as females. Investigators propose that estrogen plays a role in gastro-esophageal sphincter function as seen in humans.

A genetic mutation has been identified that, along with sex, can predict a German Shepherd Dog’s risk of congenital idiopathic megaesophagus with 75% accuracy.

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