Definition and refinement of the 7q36.3 duplication region associated with schizophrenia

Branko Aleksic, Itaru Kushima, Tamae Ohye, Masashi Ikeda, Shohko Kunimoto, Yukako Nakamura, Akira Yoshimi, Takayoshi Koide, Shuji Iritani, Hiroki Kurahashi, Nakao Iwata, Norio Ozaki

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Abstract

Using a very high-resolution oligonucleotide array for copy number variant (CNV) screening of samples comprising schizophrenic patients, we detected a novel CNV within the critical region (NCBI36/hg18, Chr7: 158,630,410-158,719, 410) previously shown to be associated with schizophrenia. We investigated the association between the novel CNV identified in the current study and schizophrenia. Three independent samples were used: (1) Screening set, 300 Japanese schizophrenic patients (53.28 ± 14.66 years); (2) Confirmation set, 531 schizophrenic patients (46.03 ± 12.15 years); and (3) 711 healthy controls (47.12 ± 11.03 years). All subjects enrolled in the study were Japanese. Chromosomal position was determined using fluorescence in situ hybridization. We identified a novel duplication within the region associated with schizophrenia identified on 7q36.3 that is adjacent to VIPR2 and is not associated with schizophrenia. In the Japanese population, the 35-kb region that harbors the common, novel CNV should be excluded from the region associated with schizophrenia on 7q36.3.

Original languageEnglish
Article number2587
JournalScientific reports
Volume3
DOIs
Publication statusPublished - 2013

All Science Journal Classification (ASJC) codes

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    Aleksic, B., Kushima, I., Ohye, T., Ikeda, M., Kunimoto, S., Nakamura, Y., Yoshimi, A., Koide, T., Iritani, S., Kurahashi, H., Iwata, N., & Ozaki, N. (2013). Definition and refinement of the 7q36.3 duplication region associated with schizophrenia. Scientific reports, 3, [2587]. https://doi.org/10.1038/srep02587