Elsevier

Neuroscience Letters

Volume 368, Issue 1, 16 September 2004, Pages 41-45
Neuroscience Letters

Association study of polymorphisms in the 5′ upstream region of human DISC1 gene with schizophrenia

https://doi.org/10.1016/j.neulet.2004.06.048Get rights and content

Abstract

Disrupted-in-Schizophrenia-1 (DISC1) is a gene in which a mutant truncation by a balanced t(1;11)(p42.1;q14.3) translocation is segregated with major psychiatric illness with a predominance of schizophrenic symptomatology in a large Scottish family. However, no functional polymorphisms have been detected that are associated with schizophrenia in general populations. As prior polymorphism searches in DISC1 have been focused on coding exons and flanking introns, the present study examined sequence variations in the 5′ upstream region of DISC1. Screening of exon 1 through to approximately 1.0 kb upstream of exon 1 identified 6 polymorphisms, including 2 novel variants, −94C>A and −199(CG)n. We tested these variants for associations with schizophrenia in the first set of a case (n = 198) and control (n = 198) panel, and found significant results with −274G>C (genotypic P = 0.01) and −215(TG)n (genotypic P = 0.039). However, we failed to replicate these associations in a second, larger independent patient (n = 532) and control (n = 519) sample. These results suggest that the genomic interval of DISC1 probably involved in transcriptional regulation does not display major genetic relevance in Japanese schizophrenia patients.

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Acknowledgments

The present study was supported by a Grant-in-Aid from the JSPS (KAKENHI 14570953), MEXT (KAKENHI 15790645) and CREST funds from the Japan Science and Technology Agency, Japan.

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