Genetic Study
The aim of the genetic study is to find the association between the phenotype (BOAS) and the genotype (specific alteration in DNA and the encoded proteins) underlying the respiratory function in brachycephalic dogs. Using a non-invasive sampling method (buccal swabs), we are building a DNA bank of brachycephalic dogs with known BOAS status (using both WBBP and clinical reports).
We have started to process the samples (more than 700 samples have been collected so far) to find genetic differences (loci implicated in the disease) between affected and non-affected groups by genome wide association studies (GWAS). After identifying the genetic regions that are responsible for increasing the risk of BOAS, we will use bioinformatics (gene localization, functional characterization) and genetic methods (direct sequencing) to reveal the molecular mechanisms behind the disease.
