Association of AKT1 haplotype with the risk of schizophrenia in Iranian population
Association of AKT1 haplotype with the risk of schizophrenia in Iranian population
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DOI：
10.1002/ajmg.b.30291
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发表时间：
2006-06-05
影响因子：
2.8
通讯作者：
Osame, Mitsubiro
中科院分区：
文献类型：
--
作者：
Bajestan, Sepideh N.;Sabouri, Amir H.;Osame, Mitsubiro
AKT-糖原合成酶激酶3 β（GSK 3 β）信号传导是锂的靶点，并与情绪障碍和精神分裂症的发病机制有关。精神分裂症患者外周血淋巴细胞和脑组织中AKT 1蛋白水平降低。AKT 1的SNP 2/3/4 TCG单倍型与北方欧洲血统的精神分裂症患者相关。在本研究中，我们根据伊朗人的原始研究，对AKT 1基因的5个单核苷酸多态性（SNP 1 -5）进行了基因分型，这些伊朗人包括321名精神分裂症患者和383名对照，所有患者都居住在伊朗东北部的马什哈德市。单倍型分析显示，精神分裂症组AGCAG（5个SNP）单倍型频率（0.068）显著高于对照组（0.034）（经Bonferroni校正后P = 0.03，OR = 2.04，CI = 1.2-3.4）。在精神分裂症亚型分层分析中，与正常对照组相比，混乱亚型中相同单倍型的频率（n = 78，单倍型频率= 0.081）显著较高（经Bonferroni校正后P = 0.04，OR 2.59，CI = 1.3-5.2）。我们的研究结果并没有证实AKT 1 SNP 2/3/4 TCG单倍型与精神分裂症风险的相关性，但显示了与伊朗人群中精神分裂症风险相关的不同单倍型，AKT 1 5-SNP AGCAG单倍型的证据。(c)2006 Wiley-Liss，Inc.
AKT-glycogen synthase kinase 3 beta (GSK3 beta) signaling is a target of lithium and has been implicated in the pathogenesis of mood disorders and schizophrenia. AKT1 protein level is decreased in the peripheral lymphocytes and brains of schizophrenic patients. The SNP2/3/4 TCG haplotype of AKT1 was associated with schizophrenia in patients with Northern European origin. In the present study, we genotyped five single nucleotide polymorphisms (SNP1-5) of AKT1 gene according to the original study in Iranians comprising of 321 schizophrenic patients and 383 controls, all residing in Mashhad city, Northeastern Iran., Haplotype analysis showed that the frequency of a five-SNP haplotype (AGCAG) was significantly higher in schizophrenic patients (0.068) than that of controls (0.034) (P = 0.03 after Bonferroni correction, OR = 2.04, CI = 1.2-3.4). In stratified analysis by schizophrenia subtypes, the frequency of the same haplotype was significantly higher in disorganized subtype (n = 78, frequency of haplotype = 0.081) when compared with normal controls (P = 0.04 after Bonferroni correction, OR 2.59, CI = 1.3-5.2). Our findings did not confirm the association of AKT1 SNP2/3/4 TCG, haplotype with the risk of schizophrenia as reported in the original study but showed the evidence of association with a different haplotype, AKT1 five-SNP AGCAG haplotype, with the risk of schizophrenia in Iranian population. (c) 2006 Wiley-Liss, Inc.