Association analyses of novel polymorphisms in the MMP-1 promoter gene with osteoarthritis secondary to hip dysplasia in dogs

FASSA, V.B; OERTLIN, G; WALDHORN, J.G.; ÁLVAREZ, A.O; MAUBECIN, E.G; PAZOS, D.A; FLORES, M.; PINTO, G.B; HUGUET, M.J; CONTE, A.; MARRUBE, G

InVet

Facultad de Ciencias Veterinarias de la Universidad de Buenos Aires

Lugar: Buenos Aires; Año: 2010

1514-6634

Hip dysplasia (HD) is a polygenic disease characterized by joint laxity and lack of congruenceleading to osteoarthritis (OA). Under many pathogenic conditions including arthritis, MMP-1synthesis is augmented. The MMP-1 gene promoter contains cytokine response elements,transcription factors AP-1 and SAF-1 that are increased in OA. The objective of the presentstudy was to identify and characterize new polymorphisms of the canine MMP-1 promotergene and evaluate their association with OA secondary to HD in different dog breeds.Based on the NCBI_006587 reference sequence, two novel polymorphisms, Indel CTGCCCT(bp31986794) and C>T (bpSNP 31986815) substitution were selected due their position ina consensus sequence belonging to a SAF-1 response element. Data was uploaded in theGenBank database (accession number GQ475524 and GQ475525). 125 dogs of differentbreeds were sampled and hip status was evaluated through ventrodorsal extended-hipradiographs. A chi-squared analysis was performed to test the association of the variables:breed, sex and genotype for each polymorphism with OA status (healthy and affected). Nosignifi cant association (p>0.05) was found between any variable and OA secondary to HD.This study does not exclude MMP-1 as a gene responsible of OA secondary to HD in thebreeds sampled because only the promoter sequence was evaluated.