The genetics of obsessive-compulsive disorder and Tourette syndrome: an epidemiological and pathway-based approach for gene discovery

Abstract

Objective: To provide a contemporary perspective on genetic discovery methods applied to obsessive-compulsive disorder (OCD) and Tourette syndrome (TS).

Method: A review of research trends in genetics research in OCD and TS is conducted, with emphasis on novel approaches.

Results: Genome-wide association studies (GWAS) are now in progress in OCD and TS and will provide a platform for future discovery of common gene variants. Optimally, newer next-generation genome sequencing methods can also be used to detect larger effect genes (rare gene variants), taking advantage of pedigrees. Studies of gene networks or sets rather than individual genes will be required to elucidate biological etiology, as neural systems appear to act redundantly. Newer phenotyping strategies, such as symptom-based subtypes, cross-disorder latent class types, and intermediate phenotypes (endophenotypes) will need to be developed and tested to better align clinical and physiological measures with genetic architecture.

Conclusion: Although genetics research has made significant advances based on computational strength and bioinformatics advances, newer approaches to phenotyping and judicious study of gene etiological networks will be needed to uncover the genetic etiology of OCD and TS.