Obsessive compulsive disorder (OCD) affects both dogs and humans. In both cases, normal behaviors are so frequently repeated that it becomes a hindrance for regular life. Looking for disease genes in dogs, we found several genes related to the synapse; both holding it together and relating to the action of neurotransmitters (sending signals between neurons). Some of these mutations were very common in some breeds, making these dogs at high risk for the disease. Collecting information about genes involved in OCD in dogs and mice and the associated pathways, we performed resequencing of more than 600 genes in human patients and healthy controls. We found four genes associated with OCD in humans. This involved two genes with changes in the proteins and two genes where the regulatory elements for the gene were mutated. In the long term, we hope that this study and the expansion of it will shed light on how to best treat OCD.
Mataix-Cols, D., Hansen, B., Mattheisen, M., Karlsson, E.K., Addington, A.M., Boberg, J., Djurfeldt, D.R., Halvorsen, M., Lichtenstein, P., Solem, S., Lindblad-Toh, K., Haavik, J., Kvale, G., Ruck, C., Crowley, J.J., 2020. Nordic OCD & Related Disorders Consortium: Rationale, design, and methods. Am J Med Genet B Neuropsychiatr Genet 183, 38–50. doi:10.1002/ajmg.b.32756
Noh, H.J., Tang, R., Flannick, J., O’Dushlaine, C., Swofford, R., Howrigan, D., Genereux, D.P., Johnson, J., van Grootheest, G., Grunblatt, E., Andersson, E., Djurfeldt, D.R., Patel, P.D., Koltookian, M., M Hultman, C., Pato, M.T., Pato, C.N., Rasmussen, S.A., Jenike, M.A., Hanna, G.L., Stewart, S.E., Knowles, J.A., Ruhrmann, S., Grabe, H.-J., Wagner, M., Ruck, C., Mathews, C.A., Walitza, S., Cath, D.C., Feng, G., Karlsson, E.K., Lindblad-Toh, K., 2017. Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder. Nature Communications 8, 774. doi:10.1038/s41467-017-00831-x
Tang, R., Noh, H.J., Wang, D., Sigurdsson, S., Swofford, R., Perloski, M., Duxbury, M., Patterson, E.E., Albright, J., Castelhano, M., Auton, A., Boyko, A.R., Feng, G., Lindblad-Toh, K., Karlsson, E.K., 2014. Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder. Genome Biology 15, R25. doi:10.1186/gb-2014-15-3-r25