The association between canine hip dysplasia and CHST14 pseudogene polymorphisms

Abstract

Canine Hip Dysplasia (CHD) is a multifactorial developmental disorder with complex polygenic hereditary characteristics. The purpose of this study was to determine the association between CHD and polymorphisms in the Carbohydrate Sulfotransferase-14 (CHST14) pseudogene, which is an active gene in humans and has a role in extracellular matrix stability and is related to Ehlers-Danlos Syndrome. There were 62 dogs included in this research: 46 in the experimental and 16 in the control group. DNA sequence analysis of CHST14 pseudogene revealed four SNPs, two SNPs in exon 1 and two SNPs in the 3’ untranslated region (UTR). Both SNPs in the 3’ UTR were found to be associated with the disease (P<0.05). The novel CHD-associated SNP found in this study is located near the target sites of cfa-miR-212 and cfa-miR-8793. cfa-miR-212 also targets TPM2, FBN2 and FGF23. cfa-miR-8793 targets SULF1. These genes play various roles in the development of the musculoskeletal system. Associated variations in 3’ UTR might alter the miRNA decoy activity of the CHST14 pseudogene and therefore affect the expression of the genes involved in cartilage and joint metabolism. Potential candidate genes in the biochemical pathways of the musculoskeletal system and their association with CHD should be explored further for a comprehensive understanding of this complex polygenic disorder in dogs.