Ontogenetic De Novo Copy Number Variations (CNVs) as a Source of Genetic Individuality: Studies on Two Families with MZD Twins for Schizophrenia Sources of Genomic Discordance between MZ Twins
2011

Genetic Individuality in Schizophrenia: Insights from Monozygotic Twins

Sample size: 8 publication 10 minutes Evidence: moderate

Author Information

Author(s): Maiti Sujit, Kumar Kiran Halagur Bhoge Gowda, Castellani Christina A., O'Reilly Richard, Singh Shiva M.

Primary Institution: The University of Western Ontario

Hypothesis

What are the genomic differences between monozygotic twins discordant for schizophrenia?

Conclusion

The study found significant genomic differences between monozygotic twins, suggesting that de novo copy number variations may contribute to schizophrenia.

Supporting Evidence

  • Samples had between 35 and 65 CNVs per individual, with the majority being gains.
  • Approximately 10% of CNVs were de novo, with a significant portion arising during developmental mitosis.
  • Identified genes associated with schizophrenia were affected by CNVs in the twins.

Takeaway

The study looked at twins who are supposed to be identical but found they have different genes, which might help explain why one twin has schizophrenia and the other doesn't.

Methodology

The study used genome-wide analysis of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) in two families with monozygotic twins.

Limitations

The findings are based on only two twin pairs, limiting the generalizability of the results.

Participant Demographics

Two families with monozygotic twins, one family with schizophrenia and the other with various psychiatric disorders.

Digital Object Identifier (DOI)

10.1371/journal.pone.0017125

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