A family-based and case-control association study of SOX10 in schizophrenia

A family-based and case-control association study of SOX10 in schizophrenia
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DOI:
10.1002/ajmg.b.30304
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发表时间:
2006-07-05
影响因子:
2.8
通讯作者:
Kato, Tadafumi
Kato, Tadafumi
中科院分区:
医学3区
文献类型:
--
作者:
Iwamoto, Kazuya;Bundo, Miki;Kato, Tadafumi

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在精神分裂症患者死后的大脑中,少突胶质细胞相关基因的下调已被一些DNA微阵列研究报道。我们最近报道了SOX 10的DNA甲基化增强与SOX 10和其他少突胶质细胞相关基因的低表达相关,SOX 10编码负责少突胶质细胞终末分化的转录因子。虽然我们排除了SOX 10基因突变筛查的SOX 10的SNPs在少突胶质细胞基因的表达和表观遗传状态改变中的可能作用,但尚不清楚其遗传多态性是否有助于精神分裂症的易感性。在这里,我们进行了一个病例对照和家庭为基础的关联研究SOX 10在日本精神分裂症患者使用6个SNPs和一个微卫星标记。通过病例对照或基于家庭的关联研究,这些标志物均未显示与精神分裂症有显著关联。单倍型分析并未显示两组之间存在显着关联。我们的结论是,在SOX 10基因的遗传变异并不有助于日本精神分裂症的易感性。(c)2006 Wiley-Liss,Inc.
Downregulation of oligodendrocyte-related genes in postmortem brains of patients with schizophrenia has been reported by several DNA microarray studies. We recently reported that enhanced DNA methylation of SOX10, which encodes a transcription factor responsible for terminal differentiation of oligodendrocyte, correlated with lower expression of SOX10 and other oligodendrocyte-related genes. Although we ruled out the possible role of SNPs of SOX10 in the altered expression and epigenetic status of oligodendrocyte genes by mutation screening of the SOX10 gene, it is not known whether its genetic polymorphisms contribute to susceptibility to schizophrenia. Here we performed a case-control and family-based association study of SOX10 in Japanese patients with schizophrenia using six SNPs and one microsatellite marker. None of these markers showed significant associations with schizophrenia by case-control or family-based association study. Haplotype analysis did not reveal significant associations between the two groups. We concluded that genetic variations in the SOX10 gene do not contribute to susceptibility to Japanese schizophrenia. (c) 2006 Wiley-Liss, Inc.