Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.
Bottom Line: Locus-specific tests of association were undertaken for test regions defined for all identified CNVs and for 20 loci implicated in autism or schizophrenia.This increased rate of CNVs was particularly high in those with intellectual disability (0·424; p=2·0×10(-6)), although there was also a significant excess in cases with no such disability (0·125, p=0·0077).Action Research; Baily Thomas Charitable Trust; Wellcome Trust; UK Medical Research Council; European Union.
Affiliation: MRC Centre in Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, UK. firstname.lastname@example.orgShow MeSH
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Mentions: In an analysis restricted to children with ADHD without intellectual disability, eight of 40 CNVs larger than 500 kb identified in the ADHD group overlapped with a locus previously implicated in autism,7,26–30 compared with only one of 78 in controls (p=0·0095; table 2). No specific single autism locus showed a significant excess of CNVs in children with ADHD (table 2). We also found that of the CNVs identified in ADHD, nine of 40 overlapped with a locus previously implicated in schizophrenia (p=0·010).9,10,22,31 Locus-specific tests revealed that this finding was largely due to the 16p13.11 region (p=0·0012), where we identified six duplications in participants with ADHD (table 2; figure 1 and figure 2). Logistic regression analysis showed no significant association between CNV size and overlap with autism (two-sided p=0·41) or schizophrenia loci (p=0·90).
Affiliation: MRC Centre in Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, UK. email@example.com