Psychiatric Genetics

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Psychiatric Genetics:
doi: 10.1097/YPG.0b013e3280ae6cd8
Original Articles

Association of SOX10 with schizophrenia in the Japanese population

Maeno, Nobuhisaa; Takahashi, Nagahidea; Saito, Shinichia; Ji, Xiaofeia; Ishihara, Ryokoa; Aoyama, Nagisaa b; Branko, Aleksica; Miura, Hidekia; Ikeda, Masashia c; Suzuki, Tatsuyoc; Kitajima, Tsuyoshic; Yamanouchi, Yoshioc; Kinoshita, Yokoc; Iwata, Nakaoc; Inada, Toshiyad; Ozaki, Norioa

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Background: Microarray studies of schizophrenic brains revealed decreases in the expression of myelin and oligodendrocyte-related genes. Of these genes, sex-determining region Y-box 10 (SOX10) is a major transcription factor modulating the expression of proteins involved in neurogenesis and myelination. The SOX10 gene is located on chromosome 22q13.1, a region repeatedly reported to show positive signals in linkage studies on schizophrenia.

Objective: This study was conducted to clarify the exact role of SOX10 in the pathophysiology of schizophrenia.

Methods: We performed an association analysis of SOX10 in a Japanese population of 915 schizophrenic patients and 927 controls. Genotyping was carried out using polymerase chain reaction restriction fragment length polymorphism.

Main results: One single nucleotide polymorphism of the SOX10 gene (rs139887) was selected as a haplotype tag single nucleotide polymorphism using 96 controls. A significant association was observed in the genotype and allelic frequency of this single nucleotide polymorphism between schizophrenic patients and controls (P=0.025 and P=0.009, respectively). Especially, a significant association was found in male patients, but not female patients. We also performed a mutational search of the whole coding region, branch site, and promoter region of SOX10 in 96 schizophrenic patients, but no potential functional polymorphisms were detected.

Conclusion: This study suggests that the SOX10 gene is related to the development of schizophrenia in the Japanese population.

© 2007 Lippincott Williams & Wilkins, Inc.


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