A preliminary Genome Wide Association Study to identify candidate genes responsible for Spastic Syndrome in Holstein cattle

Spastic syndrome is a chronic, progressive, painful and eventually fatal disorder of adult cattle. It is characterized by episodic spasms of the muscles of one or both pelvic limbs and sometimes of the back. The cause of the disease is unknown and most pathological studies have been incomplete. However, it is currently believed that it is of neuromuscular nature. The mode of inheritance for spastic syndrome was proposed to be autosomal dominant with incomplete penetrance. Carrying out a Genome Wide Association Study (GWAS), this investigation has identified one significant SNP (p < 1.33 x 10 -15 ) on BTA 9 that could be associated with the disorder. This SNP is located within the gene uronyl-2-sulfotransferase (UST). UST is involved in the synthesis of several forms of chondroitin sulfate (CS). CS is a key player in the regulation of injured axons and synapses. Therefore, a suitable genomic region has been identified for further fine mapping and research to aid in identifying genes underlying Spastic Syndrome in Holsteins.