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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

ABSTRACT: The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.

SUBMITTER: Bruder CE

PROVIDER: S-EPMC2427204 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature

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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Bruder Carl E G CE Piotrowski Arkadiusz A Gijsbers Antoinet A C J AA Andersson Robin R Erickson Stephen S Diaz de Ståhl Teresita T Menzel Uwe U Sandgren Johanna J von Tell Desiree D Poplawski Andrzej A Crowley Michael M Crasto Chiquito C Partridge E Christopher EC Tiwari Hemant H Allison David B DB Komorowski Jan J van Ommen Gert-Jan B GJ Boomsma Dorret I DI Pedersen Nancy L NL den Dunnen Johan T JT Wirdefeldt Karin K Dumanski Jan P JP

American journal of human genetics 20080214 3

The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of gen ...[more]

PMID: 18304490

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Project description:To investigate environmental factors that protect against or exacerbate obsessive-compulsive (OC) symptoms, we selected 25 monozygotic (MZ) twin pairs discordant, 17 MZ twin pairs concordant high and 34 MZ pairs concordant low on OC symptoms from a large longitudinal Dutch sample of adult twin pairs and their family members, applying stringent criteria for OC symptomatology. Data were collected on psychopathology, family structure, health, lifestyle, birth complications and life events. Unique environmental factors were studied using within-discordant MZ pair comparisons, whereas between-concordant MZ pair comparisons were used to study environmental factors that are shared by the twins of an MZ pair. The high-scoring MZ twins of the discordant group reported more life events (especially sexual abuse) than their low-scoring twin-siblings. The between-pair comparisons showed lower birth weight in the discordant MZ pairs than in the concordant MZ pairs. Further, the concordant high MZ pairs as well as their spouses had a lower educational level than the two other groups. On scale scores of anxious-depression, neuroticism, and somatic complaints, concordant high MZ pairs showed highest scores, and the discordant MZ pairs scored intermediate, except for neuroticism, on which the high-scoring twins of discordant MZ pairs were equal to the concordant high pairs. Discordance on psychological scale scores between the concordant MZ pairs was evident from 1991 onward, and within the discordant MZ pairs from 1997 onward, confirming previous reports of an association of early-onset OC symptoms with higher genetic load. Parent scores of OC symptoms and anxious-depression suggested intermediate genetic load in the discordant MZ group. In conclusion, this study reports on both unique and shared environmental factors associated with OC symptomatology. Whether these factors operate in addition to or in interaction with genetic disposition is to be elucidated in future studies.

Dataset Information

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Publications

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

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