Abstract
Several researchers have discovered monozygotic twins that are discordant for several phenotypes caused by genomic differences. Recently, copy number variations (CNVs) have gained attention as common structural variations in the human genome that strongly affect genomic diversity. CNVs can play a role in the development of several diseases including neuropsychiatric disorders, particularly autism spectrum disorder and schizophrenia. Recent reports have indicated that monozygotic twins can show different CNV profiles.
As a trial to identify susceptible loci for schizophrenia, we searched for CNVs in three pairs of monozygotic twins discordant for schizophrenia using the Affymetrix Genome-Wide Human SNP Array 6. 0. A paired analysis of copy number state detected several deleted or amplificated regions in the twins’ genomes. However, the differences between twin pairs could not be confirmed in any of the tested regions using quantitative PCR.
Although we did not find any differences in copy numbers between the twin pairs in this study, CNV analysis of discordant monozygotic twin is still likely to be a powerful tool for identifying the loci responsible for schizophrenia.
