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The ABCC4 gene is associated with pyometra in golden retriever dogs

Arendt, Maja and Ambrosen, Aime and Fall, Tove and Kierczak, Marcin and Tengvall, Katarina and Meadows, Jennifer R. S. and Karlsson, Asa and Lagerstedt, Anne-Sofie and Bergstrom, Tomas and Andersson, Göran and Lindblad-Toh, Kerstin and Hagman, Ragnvi (2021). The ABCC4 gene is associated with pyometra in golden retriever dogs. Scientific Reports. 11 , 16647
[Research article]

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Abstract

Pyometra is one of the most common diseases in female dogs, presenting as purulent inflammation and bacterial infection of the uterus. On average 20% of intact female dogs are affected before 10 years of age, a proportion that varies greatly between breeds (3-66%). The clear breed predisposition suggests that genetic risk factors are involved in disease development. To identify genetic risk factors associated with the disease, we performed a genome-wide association study (GWAS) in golden retrievers, a breed with increased risk of developing pyometra (risk ratio: 3.3). We applied a mixed model approach comparing 98 cases, and 96 healthy controls and identified an associated locus on chromosome 22 (p = 1.2 x 10(-6), passing Bonferroni corrected significance). This locus contained five significantly associated SNPs positioned within introns of the ATP-binding cassette transporter 4 (ABCC4) gene. This gene encodes a transmembrane transporter that is important for prostaglandin transport. Next generation sequencing and genotyping of cases and controls subsequently identified four missense SNPs within the ABCC4 gene. One missense SNP at chr22:45,893,198 (p.Met787Val) showed complete linkage disequilibrium with the associated GWAS SNPs suggesting a potential role in disease development. Another locus on chromosome 18 overlapping the TESMIN gene, is also potentially implicated in the development of the disease.

Authors/Creators:Arendt, Maja and Ambrosen, Aime and Fall, Tove and Kierczak, Marcin and Tengvall, Katarina and Meadows, Jennifer R. S. and Karlsson, Asa and Lagerstedt, Anne-Sofie and Bergstrom, Tomas and Andersson, Göran and Lindblad-Toh, Kerstin and Hagman, Ragnvi
Title:The ABCC4 gene is associated with pyometra in golden retriever dogs
Series Name/Journal:Scientific Reports
Year of publishing :2021
Volume:11
Article number:16647
Number of Pages:11
Publisher:NATURE PORTFOLIO
ISSN:2045-2322
Language:English
Publication Type:Research article
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 1 Natural sciences > 106 Biological Sciences (Medical to be 3 and Agricultural to be 4) > Genetics (medical genetics to be 30107 and agricultural genetics to be 40402)
URN:NBN:urn:nbn:se:slu:epsilon-p-113513
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-113513
Additional ID:
Type of IDID
DOI10.1038/s41598-021-95936-1
Web of Science (WoS)000686690900074
ID Code:25302
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Clinical Sciences
(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:10 Sep 2021 12:25
Metadata Last Modified:10 Sep 2021 12:31

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