Genome-wide association study of bipolar disorder in european americans

Laura Scott; Jun Li; Devin Absher; Robert C. Thompson; Weihua Guan; Fan Meng; Margit Burmeister,; Huda Akil; Stanley J. Watson; Richard M. Myers; Michael Boehnke
World Congress on Psychiatric Genetics XV. 2007.


INTRODUCTION: We have performed a genome-wide association study of ~1,200 bipolar cases and ~800 controls to identify variants that increase the risk of bipolar disease. METHODS: For this study, we selected one or two European American bipolar 1 (BP1) or schizo-affective bipolar cases per sibship from the NIMH Genetics and Prechter repositories. We selected controls from samples available in the NIMH Genetics Repository that reported no bipolar disease, schizophrenia, or major depression. We matched the controls to the cases by self-reported ancestry from different regions of Europe. We used the Illumina Humanhap550 Genotyping Beadchips to perform genome-wide genotyping of 550K SNPs on these samples. RESULTS: We have completed genotyping and analysis for 466 cases and 467 controls. Of these samples, fewer than 1% had call rates of <98.5%. More than 99.5% of the SNPs passed all quality control measures. Inferred ancestry showed reasonable agreement with self-reported ancestry, and confirmed adequate sample matching, with a Genomic Control factor of 1.02. Allelic intensity data revealed extensive copy number variation (CNV), covering a broad range of lengths and population frequencies. Preliminary analyses yielded no associations with genome-wide significance. DISCUSSION: Genotyping is nearing completion for the total case and control sample. Our analyses will also incorporate publicly available control datasets while controlling for inferred European ancestry.