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Research article - Peer-reviewed, 2021

The ABCC4 gene is associated with pyometra in golden retriever dogs

Arendt, Maja; Ambrosen, Aime; Fall, Tove; Kierczak, Marcin; Tengvall, Katarina; Meadows, Jennifer R. S.; Karlsson, Asa; Lagerstedt, Anne-Sofie; Bergstrom, Tomas; Andersson, Goran; Lindblad-Toh, Kerstin; Hagman, Ragnvi


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.

Published in

Scientific Reports
2021, volume: 11, number: 1, article number: 16647

Authors' information

Arendt, Maja
University of Copenhagen
Ambrosen, Aime
Swedish University of Agricultural Sciences, Department of Clinical Sciences
Fall, Tove
Uppsala University
Kierczak, Marcin
Uppsala University
Tengvall, Katarina
Uppsala University
Meadows, Jennifer R. S.
Uppsala University
Karlsson, Asa
Uppsala University
Swedish University of Agricultural Sciences, Department of Clinical Sciences
Bergstrom, Tomas
No organisation
Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics
Lindblad-Toh, Kerstin
Massachusetts Institute of Technology (MIT)
Swedish University of Agricultural Sciences, Department of Clinical Sciences

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