ArticleEuropean journal of human genetics : EJHG2012
De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.European journal of human genetics : EJHG · 2019Trial
- Twins, tissue, and time: an assessment of SNPs and CNVs.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2012Trial
- Technical strategy for monozygotic twin discrimination by single-nucleotide variants.International journal of legal medicine · 2024Article
- UK IBD Twin Registry: Concordance and Environmental Risk Factors of Twins with IBD.Digestive diseases and sciences · 2022Article
- Differences between germline genomes of monozygotic twins.Nature genetics · 2021Article
- Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.Journal of diabetes investigation · 2019Article
- Genetic instrumental variable regression: Explaining socioeconomic and health outcomes in nonexperimental data.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2017Article
- Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia.Clinical and translational medicine · 2017Article
- Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.Genetics research · 2015Article
- Heritability in inflammatory bowel disease: from the first twin study to genome-wide association studies.Inflammatory bowel diseases · 2015Review
- Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.Allergy, asthma & immunology research · 2015Article
- Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat.Clinical epigenetics · 2015Article
- Genomic screening of testicular germ cell tumors from monozygotic twins.Orphanet journal of rare diseases · 2014Article
- Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder.Case reports in genetics · 2014Article
- Article
- De novo copy number variations in cloned dogs from the same nuclear donor.BMC genomics · 2013Article
- Article
- Twin Mitochondrial Sequence Analysis.Molecular genetics & genomic medicine · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
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 ∼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.
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Registered trials
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