{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:57:33Z","timestamp":1774313853580,"version":"3.50.1"},"reference-count":62,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"American Kennel Club Canine Health Foundation of the American Kennel Club","award":["CHF 01937-B"],"award-info":[{"award-number":["CHF 01937-B"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Canine gastric dilatation-volvulus (GDV) is a common life-threatening condition occurring primarily in large and giant breeds with a 3.9% to 36.7% lifetime risk. The genetic correlates of GDV have not previously been systematically explored. We undertook an inter-breed genome-wide association analysis (GWAS) of 253 dogs from ten breeds including 106 healthy dogs and 147 dogs with at least one GDV episode. SNP array genotyping followed by imputation was conducted on 241 samples to identify GDV-associated single-nucleotide polymorphisms (SNPs) and copy number variations (CNVs). A subset of 33 dogs (15 healthy dogs and 18 GDV patients from the three most represented breeds) was characterized by whole genome sequencing (WGS). After genome-wide Bonferroni correction, we identified a significant putatively protective intergenic SNP (rs851737064) across all breeds. The signal was most significant in Collies, German Shorthaired Pointers, and Great Danes. Subsequent focused analysis across these three breeds identified 12 significant additional putatively protective or deleterious SNPs. Notable significant SNPs included those occurring in genes involved in gastric tone and motility including VHL, NALCN, and PRKCZ. These data provide important new clues to canine GDV risk factors and facilitate generation of hypotheses regarding the genetic and molecular underpinnings this syndrome.<\/jats:p>","DOI":"10.3390\/genes11111313","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T09:04:34Z","timestamp":1604567074000},"page":"1313","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of Genetic Susceptibility Factors Associated with Canine Gastric Dilatation-Volvulus"],"prefix":"10.3390","volume":"11","author":[{"given":"Ignazio S.","family":"Piras","sequence":"first","affiliation":[{"name":"Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nieves","family":"Perdigones","sequence":"additional","affiliation":[{"name":"Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Zismann","sequence":"additional","affiliation":[{"name":"Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Briones","sequence":"additional","affiliation":[{"name":"Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Facista","sequence":"additional","affiliation":[{"name":"Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Luis","family":"Rivera","sequence":"additional","affiliation":[{"name":"Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Rozanski","sequence":"additional","affiliation":[{"name":"Cummings School of Veterinary Medicine, Tufts University, Grafton, MA 01536, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl A.","family":"London","sequence":"additional","affiliation":[{"name":"Cummings School of Veterinary Medicine, Tufts University, Grafton, MA 01536, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7192-8699","authenticated-orcid":false,"given":"William P. D.","family":"Hendricks","sequence":"additional","affiliation":[{"name":"Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.2460\/javma.1994.204.09.1465","article-title":"Analysis of risk factors for gastric dilatation and dilatation-volvulus in dogs","volume":"204","author":"Glickman","year":"1994","journal-title":"J. Am. Vet. Med. Assoc."},{"key":"ref_2","first-page":"981","article-title":"Occurrence and recurrence of gastric dilatation with or without volvulus after incisional gastropexy","volume":"10","author":"Przywara","year":"2014","journal-title":"Can. Vet. 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