Molecular Autism


Open Access Editorial

Genetics in psychiatry: common variant association studies

Joseph D Buxbaum1*, Simon Baron-Cohen2 and Bernie Devlin3

Author Affiliations

1 Seaver Autism Center for Research and Treatment and Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA

2 Autism Research Centre, Department of Psychiatry, Cambridge University, Cambridge, UK

3 Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA

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Molecular Autism 2010, 1:6 doi:10.1186/2040-2392-1-6

Published: 25 March 2010

Abstract

Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.