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Association study of polymorphisms between DISC1 and schizophrenia in a Korean population
Authors:Kim Hak-Jae  Park Hae Jeong  Jung Kyung Hee  Ban Ju Yeon  Ra Jehyun  Kim Jong Woo  Park Jin Kyung  Choe Bong-Keun  Yim Sung Vin  Kwon Yunhee Kim  Chung Joo-Ho
Affiliation:Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 130-701, Republic of Korea.
Abstract:To further clarify schizophrenia (SCZ), disrupted in schizophrenia 1 (DISC1) is a promising candidate gene expressed predominantly within the hippocampus. Several lines of evidence suggest that DISC1 may be involved in susceptibility to SCZ. In this study, we investigated whether genetic polymorphisms in the coding region of DISC1 were associated with several SCZ clinical phenotypes in a Korean population. To examine any association between DISC1 and SCZ, we genotyped three clinical single nucleotide polymorphisms (SNPs) (rs3738401, R264Q; rs3738402, L465L; rs821616, S704C) in the coding region of the DISC1 gene using the Illumina Sentrix Array Matrix chip and direct sequencing in 303 patients with SCZ and 300 healthy controls. Our case-control analysis showed that none of these SNPs was associated with SCZ. In further endophenotype stratification, however, we found a significant association between rs821616 and the poor concentration subgroup of SCZ, determined using the Operational Criteria Checklist (codominant model, p=0.015). Our results suggest that DISC1 may be a susceptibility gene for poor concentration among Korean patients with SCZ.
Keywords:Disrupted in schizophrenia 1   Poor concentration   Schizophrenia   Single nucleotide polymorphism
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