PMID- 22490988
OWN - NLM
STAT- MEDLINE
DCOM- 20130619
LR  - 20220129
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 20
IP  - 10
DP  - 2012 Oct
TI  - De novo and inherited CNVs in MZ twin pairs selected for discordance and 
      concordance on Attention Problems.
PG  - 1037-43
LID - 10.1038/ejhg.2012.49 [doi]
AB  - Copy number variations (CNVs) have been reported to be causal suspects in a 
      variety of psychopathologic traits. We investigate whether de novo and/or 
      inherited CNVs contribute to the risk for Attention Problems (APs) in children. 
      Based on longitudinal phenotyping, 50 concordant and discordant monozygotic (MZ) 
      twin pairs were selected from a sample of  approximately 3200 MZ pairs. Two types of de novo 
      CNVs were investigated: (1) CNVs shared by both MZ twins, but not inherited 
      (pre-twinning de novo CNVs), which were detected by comparing copy number (CN) 
      calls between parents and twins and (2) CNVs not shared by co-twins 
      (post-twinning de novo CNVs), which were investigated by comparing the CN calls 
      within MZ pairs. The association between the overall CNV burden and AP was also 
      investigated for CNVs genome-wide, CNVs within genes and CNVs outside of genes. 
      Two de novo CNVs were identified and validated using quantitative PCR: a 
      pre-twinning de novo duplication in a concordant-unaffected twin pair and a 
      post-twinning deletion in the higher scoring twin from a concordant-affected 
      pair. For the overall CNV burden analyses, affected individuals had significantly 
      larger CNVs that overlapped with genes than unaffected individuals (P=0.008). 
      This study suggests that the presence of larger CNVs may increase the risk for 
      AP, because they are more likely to affect genes, and confirms that MZ twins are 
      not always genetically identical.
FAU - Ehli, Erik A
AU  - Ehli EA
AD  - Avera Institute for Human Genetics, Avera Behavioral Health Center, Sioux Falls, 
      SD 57106, USA.
FAU - Abdellaoui, Abdel
AU  - Abdellaoui A
FAU - Hu, Yueshan
AU  - Hu Y
FAU - Hottenga, Jouke Jan
AU  - Hottenga JJ
FAU - Kattenberg, Mathijs
AU  - Kattenberg M
FAU - van Beijsterveldt, Toos
AU  - van Beijsterveldt T
FAU - Bartels, Meike
AU  - Bartels M
FAU - Althoff, Robert R
AU  - Althoff RR
FAU - Xiao, Xiangjun
AU  - Xiao X
FAU - Scheet, Paul
AU  - Scheet P
FAU - de Geus, Eco J
AU  - de Geus EJ
FAU - Hudziak, James J
AU  - Hudziak JJ
FAU - Boomsma, Dorret I
AU  - Boomsma DI
FAU - Davies, Gareth E
AU  - Davies GE
LA  - eng
GR  - R01 MH58799-03/MH/NIMH NIH HHS/United States
GR  - 230374/ERC_/European Research Council/International
GR  - 1RC2 MH089995-01/MH/NIMH NIH HHS/United States
GR  - U24 MH068457/MH/NIMH NIH HHS/United States
GR  - U24 MH068457-06/MH/NIMH NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Twin Study
DEP - 20120411
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Attention Deficit Disorder with Hyperactivity/*genetics
MH  - Child
MH  - DNA Copy Number Variations/*genetics
MH  - Female
MH  - Genome, Human
MH  - Humans
MH  - Male
MH  - Twins, Monozygotic/*genetics
PMC - PMC3449078
EDAT- 2012/04/12 06:00
MHDA- 2013/06/20 06:00
PMCR- 2012/10/01
CRDT- 2012/04/12 06:00
PHST- 2012/04/12 06:00 [entrez]
PHST- 2012/04/12 06:00 [pubmed]
PHST- 2013/06/20 06:00 [medline]
PHST- 2012/10/01 00:00 [pmc-release]
AID - ejhg201249 [pii]
AID - 10.1038/ejhg.2012.49 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2012 Oct;20(10):1037-43. doi: 10.1038/ejhg.2012.49. Epub 2012 
      Apr 11.