Association of AKT1 with schizophrenia confirmed in a Japanese population
Association of AKT1 with schizophrenia confirmed in a Japanese population
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DOI：
10.1016/j.biopsych.2004.07.023
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发表时间：
2004-11-01
影响因子：
10.6
通讯作者：
Ozaki, N
中科院分区：
文献类型：
--
作者：
Ikeda, M;Iwata, N;Ozaki, N
背景：V-akt小鼠胸腺瘤病毒癌基因同源物1（AKT 1）的异常可能是精神分裂症的易感因素。最近的证据支持这一假设表明，精神分裂症患者的AKT 1蛋白水平下降，并根据传递不平衡检验，AKT 1单倍型显着关联。我们使用相对较大的病例对照样本（507名日本精神分裂症患者和437名对照受试者）首次重复了这一证据。我们的基因分型五个单核苷酸多态性（SNTs）从原来的研究和一个额外的SNP.Results：我们发现了一个正相关的SNP（SNP 5）从原来的研究结果（SNP 3）不同，也显着构建的单倍型从SNP 5的组合。SNP 5周围的连锁不平衡是复杂的，可能会产生这种正association.Conclusions：我们的研究提供了支持的理论，AKT 1是日本精神分裂症的易感基因。精细的连锁不平衡作图是得出结论性结果所必需的。
Background: Abnormality of the V-akt murine thymoma viral oncogene homologue 1 (AKT1) may be a predisposing factor in schizophrenia. Recent evidence supporting this hypothesis showed decreased AKT1 protein levels in patients with schizophrenia and significant association of AKT1 haplotypes according to the transmission disequilibrium test.Methods. We provide the first replication of this evidence using a relatively large case-control sample (507 Japanese schizophrenia and 437 control subjects). We genotyped five single nucleotide polymorphisms (SNTs) from the original study and one additional SNP.Results: We found a positive association with an SNP (SNP5) different from the original study's findings (SNP3) and also significance in the haplotypes constructed from the combination of SNP5. Linkage disequilibrium around SNP5 was complex and may produce this positive association.Conclusions: Our study provides support for the theory that AKT1 is a susceptibility gene for japanese schizophrenia. Fine linkage disequilibrium mapping is required for a conclusive result.