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Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A - Lancet (2010)

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.

View Article: PubMed Central - PubMed

Affiliation: MRC Centre in Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, UK. williamsnm@cf.ac.uk

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Positions of CNVs identified at chromosome 16p13.11The positions of rare copy number variants (CNVs) larger than 500 kb identified at the chromosome 16p13.11 region. Green lines show the six duplications identified in patients with attention-deficit hyperactivity disorder and the red line shows the deletion identified in a single control. The consensus region that is spanned by all CNVs is shown by the arrow. Orange bars show known segmental duplications and therefore the most likely location of the breakpoints for the CNVs identified. The relative locations of genes are based on National Center for Biotechnology Information reference build 36.1 in the University of California Santa Cruz (UCSC) Genome Browser.
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f20: Positions of CNVs identified at chromosome 16p13.11The positions of rare copy number variants (CNVs) larger than 500 kb identified at the chromosome 16p13.11 region. Green lines show the six duplications identified in patients with attention-deficit hyperactivity disorder and the red line shows the deletion identified in a single control. The consensus region that is spanned by all CNVs is shown by the arrow. Orange bars show known segmental duplications and therefore the most likely location of the breakpoints for the CNVs identified. The relative locations of genes are based on National Center for Biotechnology Information reference build 36.1 in the University of California Santa Cruz (UCSC) Genome Browser.

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).


Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A - Lancet (2010)

Positions of CNVs identified at chromosome 16p13.11The positions of rare copy number variants (CNVs) larger than 500 kb identified at the chromosome 16p13.11 region. Green lines show the six duplications identified in patients with attention-deficit hyperactivity disorder and the red line shows the deletion identified in a single control. The consensus region that is spanned by all CNVs is shown by the arrow. Orange bars show known segmental duplications and therefore the most likely location of the breakpoints for the CNVs identified. The relative locations of genes are based on National Center for Biotechnology Information reference build 36.1 in the University of California Santa Cruz (UCSC) Genome Browser.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2965350&req=5

f20: Positions of CNVs identified at chromosome 16p13.11The positions of rare copy number variants (CNVs) larger than 500 kb identified at the chromosome 16p13.11 region. Green lines show the six duplications identified in patients with attention-deficit hyperactivity disorder and the red line shows the deletion identified in a single control. The consensus region that is spanned by all CNVs is shown by the arrow. Orange bars show known segmental duplications and therefore the most likely location of the breakpoints for the CNVs identified. The relative locations of genes are based on National Center for Biotechnology Information reference build 36.1 in the University of California Santa Cruz (UCSC) Genome Browser.
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).

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.

View Article: PubMed Central - PubMed

Affiliation: MRC Centre in Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, UK. williamsnm@cf.ac.uk

Show MeSH
Related in: MedlinePlus