Objective:A major motivation for seeking disease-associated genetic variation is to identify novel risk processes. Although rare copy number variants (CNVs) appear to contribute to attention deficit hyperactivity disorder (ADHD), common risk variants (single-nucleotide polymorphisms [SNPs]) have not yet been detected using genome-wide association studies (GWAS). This raises the concern as to whether future larger-scale, adequately powered GWAS will be worthwhile. The authors undertook a GWAS of ADHD and examined whether associated SNPs, including those below conventional levels of significance, influenced the same biological pathways affected by CNVs. Method:The authors analyzed genome-wide SNP frequencies in 727 children with ADHD and 5,081 comparison subjects. The gene sets that were enriched in a pathway analysis of the GWAS data (the top 5% of SNPs) were tested for an excess of genes spanned by large, rare CNVs in the children with ADHD. Results:No SNP achieved genome-wide significance levels. As prev...
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Barwick, D. (1994). BOOK REVIEWS: Electroencephalography: Basic Principles, Clinical Applications, and Related Fields/3rd Edition. Journal of Neurology, Neurosurgery & Psychiatry, 57(6), 771–771. https://doi.org/10.1136/jnnp.57.6.771-a
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