Naslov
Genetic background of aortic stenosis in Slovenian population of Boxer dogs

Autori
Perovic, A. ; Petric, A.D. ; Djurkin Kusec, I. ; Zorc, M. ; Dovc, P.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Proceedings of the 37th International Conference on Animal Genetics, Lleida, Spain / Pena, Romi ; Estany, Joan - Lleida, 2019, 98-99

Skup
37th International Conference on Animal Genetics

Mjesto i datum
Lleida, Španjolska, 07.06.2019. - 12.06.2019

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
aortic stenosis ; congenital heart defect ; Boxer ; GWAS ; candidate genes

Sažetak
Aortic stenosis (AS) is a frequent congenital heart disease (CHD) in dogs, representing about 15% of all congenital heart defects. Among pure breed dogs, the incidence of AS is increased in herding, working, sporting, mastiff-like and retriever breeds. The fact, that the higher incidence of AS is associated with the increase of inbreeding coefficient in the population, supports assumption that AS has a genetic component. Genetic background of AS has been studied in several dog breeds with the aim to decipher its mode of inheritance and causal mutation for it. In some studies, the autosomal codominant mode of inheritance with moderate penetrance has been proposed. In Slovenian population of Boxers, the subvalvular type of stenosis was detected as the most frequent type of AS, which was frequently accompanied with pulmonic stenosis. Animals included in this study were divided into 2 groups based on severity of clinical sigs of aortic stenosis detected by ultra sound diagnosis, blood pressure and flow velocity. The blood pressure of the group with severe AS was higher than 80 mmHg and flow velocity was above 4.5 m/s. The control group without signs of AS had blood pressure lower than 20 mmHg and flow velocity less than 2.25 m/s. The genotyping of animals (n = 16) was performed using Illumina 170k CanineHD BeadChip. The quality control of genotypes and genome-wide association study (GWAS) analysis were performed using SVS Golden Helix V.8.8.3. The linear regression model, previously corrected for population structure, was used for GWAS and revealed candidate regions on chromosomes 8 and 11. On CFA8 lincRNA - ENSCAFG00000039469 was identified within the candidate region and on CFA11 2 candidate genes (RPSAP37 and GRAMD3) were found within the candidate region. Both genes on CFA11 were already proposed to be involved in the angiogenesis.

Izvorni jezik
Engleski

Znanstvena područja
Interdisciplinarne prirodne znanosti, Veterinarska medicina, Poljoprivreda (agronomija)

POVEZANOST RADA