The ABCC4 gene is associated with pyometra in golden retriever dogs

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 predispos...

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Autores principales:	Maja Arendt, Aime Ambrosen, Tove Fall, Marcin Kierczak, Katarina Tengvall, Jennifer R. S. Meadows, Åsa Karlsson, Anne-Sofie Lagerstedt, Tomas Bergström, Göran Andersson, Kerstin Lindblad-Toh, Ragnvi Hagman
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/467d05073fb149be93e6bcde4a0d7288
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spelling	oai:doaj.org-article:467d05073fb149be93e6bcde4a0d72882021-12-02T18:51:52ZThe ABCC4 gene is associated with pyometra in golden retriever dogs10.1038/s41598-021-95936-12045-2322https://doaj.org/article/467d05073fb149be93e6bcde4a0d72882021-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-95936-1https://doaj.org/toc/2045-2322Abstract 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 × 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.Maja ArendtAime AmbrosenTove FallMarcin KierczakKatarina TengvallJennifer R. S. MeadowsÅsa KarlssonAnne-Sofie LagerstedtTomas BergströmGöran AnderssonKerstin Lindblad-TohRagnvi HagmanNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Maja Arendt Aime Ambrosen Tove Fall Marcin Kierczak Katarina Tengvall Jennifer R. S. Meadows Åsa Karlsson Anne-Sofie Lagerstedt Tomas Bergström Göran Andersson Kerstin Lindblad-Toh Ragnvi Hagman The ABCC4 gene is associated with pyometra in golden retriever dogs
description	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 × 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.
format	article
author	Maja Arendt Aime Ambrosen Tove Fall Marcin Kierczak Katarina Tengvall Jennifer R. S. Meadows Åsa Karlsson Anne-Sofie Lagerstedt Tomas Bergström Göran Andersson Kerstin Lindblad-Toh Ragnvi Hagman
author_facet	Maja Arendt Aime Ambrosen Tove Fall Marcin Kierczak Katarina Tengvall Jennifer R. S. Meadows Åsa Karlsson Anne-Sofie Lagerstedt Tomas Bergström Göran Andersson Kerstin Lindblad-Toh Ragnvi Hagman
author_sort	Maja Arendt
title	The ABCC4 gene is associated with pyometra in golden retriever dogs
title_short	The ABCC4 gene is associated with pyometra in golden retriever dogs
title_full	The ABCC4 gene is associated with pyometra in golden retriever dogs
title_fullStr	The ABCC4 gene is associated with pyometra in golden retriever dogs
title_full_unstemmed	The ABCC4 gene is associated with pyometra in golden retriever dogs
title_sort	abcc4 gene is associated with pyometra in golden retriever dogs
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/467d05073fb149be93e6bcde4a0d7288
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The ABCC4 gene is associated with pyometra in golden retriever dogs

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