The ESR1 gene is associated with risk for canine mammary tumours
2013 (English)In: BMC Veterinary Research, ISSN 1746-6148, Vol. 9, 69- p.Article in journal (Refereed) Published
Background: The limited within-breed genetic heterogeneity and an enrichment of disease-predisposing alleles have made the dog a very suitable model for the identification of genes associated with risk for specific diseases. Canine mammary cancer is an example of such a disease. However, the underlying inherited risk factors for canine mammary tumours (CMTs) are still largely unknown. In this study, 52 single nucleotide polymorphisms (SNPs) in ten human cancer-associated genes were genotyped in two different datasets in order to identify genes/alleles associated with the development of CMTs. The first dataset consisted of English Springer Spaniel (ESS) CMT cases and controls. ESS is a dog breed known to be at increased risk of developing CMTs. In the second dataset, dogs from breeds known to have a high frequency of CMTs were compared to dogs from breeds with a lower occurrence of these tumours. Results: We found significant associations to CMT for SNPs and haplotypes in the estrogen receptor 1 (ESR1) gene in the ESS material (best P-Bonf = 0.021). A large number of SNPs, among them several SNPs in ESR1, showed significantly different allele frequencies between the high and low risk breed groups (best P-Bonf = 8.8E-32, best P-BPerm = 0.076). Conclusions: The identification of CMT-associated SNPs in ESR1 in two independent datasets suggests that this gene might be involved in CMT development. These findings also support that CMT may serve as a good model for human breast cancer research.
Place, publisher, year, edition, pages
2013. Vol. 9, 69- p.
Dog, Single nucleotide polymorphism, Allele frequency, Risk, Association, Mammary tumour, Estrogen receptor
Agricultural Sciences Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-200351DOI: 10.1186/1746-6148-9-69ISI: 000318046000001OAI: oai:DiVA.org:uu-200351DiVA: diva2:623603