Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery

Margaret A Keller¹, Katrina Gwinn², Josefina Nash¹, Jonathan Horsford³, Ran Zhang², Stephen S Rich⁴, Roderick A Corriveau¹

¹Coriell Institute for Medical Research, Camden, NJ, USA; ²National Institute for Neurological Disorders and Stroke-NIH, Bethesda, MD, USA; ³National Institute of Dental and Craniofacial Research-NIH, Bethesda, MD, USA; ⁴Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA

Abstract: Family history, which includes both common environmental and genetic effects, is associated with an increased risk for many neuropsychiatric diseases. Investigators have identified several disease-causing mutations for specific neuropsychiatric disorders that display Mendelian segregation. Such discoveries can lead to more rational drug design and improved intervention from a better understanding of the underlying biological mechanisms. However, a key challenge of genetic discovery in human complex diseases, including neuropsychiatric disorders, is that most diseases with genetic components display non-Mendelian patterns of inheritance. Recent advances in human population genetics include high-density genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. This approach is currently the most powerful strategy for analyzing the genetics of complex diseases. Genome-wide SNP analyses often require a large collaborative effort to collect, manage, and disseminate the numerous samples and corresponding clinical data. In this review we discuss the use of publicly available biorepositories for the collection and distribution of human genetic material, associated phenotypic information, and their use in genome-wide investigations of human neuropsychiatric diseases.

Keywords: repository, human, neurology, consent, genetics, bioinformatics