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

Grant Status: Closed

Grant Amount: $57,930
Leigh Anne Clark, PhD; Clemson University
February 1, 2020 - July 31, 2022

Sponsor(s): Great Dane Club of America Charitable Trust, Irish Setter Club of America Foundation, Curly-Coated Retriever Club of America

Breed(s): Great Dane
Research Program Area: Gastrointestinal Disease
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Gastrointestinal motility disorders affect the nerves and muscles of the esophagus, stomach, and/or the intestines, causing digestive disturbances. Congenital idiopathic megaesophagus (CIM) is an esophageal motility disorder of dogs wherein contractility is reduced and leads to an enlargement of the esophagus. Affected puppies regurgitate after eating and survivors are susceptible to life-threatening complications. The highest incidences of CIM occur in the Great Dane and German Shepherd Dog breeds. Gastric dilatation-volvulus (GDV or bloat) is characterized by dilatation and twisting of the stomach, cutting off blood and oxygen to the organs. Based on a previous study for CIM in Great Danes, the investigators will 1) study a narrow region of chromosome 6, shown to be a major risk factor for CIM; 2) seek additional genomic regions that contribute to CIM, and 3) determine association between CIM and GDV based on shared genetic risk factors that impact gastrointestinal motility. The investigators hope to establish a pattern of transmission and develop a genetic test to reduce the incidence of CIM, and potentially GDV, in Great Danes.


Bell, S.M., Evans, J.M., Greif, E.A. et al. GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus. Mamm Genome (2023). https://doi.org/10.1007/s00335-023-09991-2

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. https://doi.org/10.1371/journal.pgen.1010044

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