Association study identifying a new susceptibility gene (AUTS2) for schizophrenia.

Association study identifying a new susceptibility gene (AUTS2) for schizophrenia.
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鉴定精神分裂症新易感基因 (AUTS2) 的关联研究

DOI:
10.3390/ijms151119406
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发表时间:
2014-10-24
影响因子:
5.6
通讯作者:
Li SB
Li SB
中科院分区:
生物学2区
文献类型:
--
作者:
Zhang B;Xu YH;Wei SG;Zhang HB;Fu DK;Feng ZF;Guan FL;Zhu YS;Li SB

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精神分裂症(SCZ)是一种严重的、使人衰弱的精神疾病,导致SCZ风险的特定遗传因素仍然难以捉摸。据报道,自闭症易感候选基因2(AUTS2)与自闭症、自杀、饮酒和海洛因依赖有关。我们推测AUTS2可能与SCZ相关。本研究采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)和强制PCR-RFLP方法对410例SCZ患者和435例正常对照的AUTS2基因3个多态(rs6943555、rs7459368和rs9886351)进行了基因分型。我们发现SCZ与rs6943555基因分布相关(优势比(OR)=1.363,95%可信区间(CI):0.848-2.191,p=0.001)。在对性别进行调整后,这种相关性仍然显著,在女性中观察到了显著的影响(p=0.001)。在本研究中,rs6943555被确定与女性SCZ相关。我们的结果证实了以前的报道,即rs6943555可能阐明了精神分裂症的发病机制,并在其病因学中发挥了重要作用。
Schizophrenia (SCZ) is a severe and debilitating mental disorder, and the specific genetic factors that underlie the risk for SCZ remain elusive. The autism susceptibility candidate 2 (AUTS2) gene has been reported to be associated with autism, suicide, alcohol consumption, and heroin dependence. We hypothesized that AUTS2 might be associated with SCZ. In the present study, three polymorphisms (rs6943555, rs7459368, and rs9886351) in the AUTS2 gene were genotyped in 410 patients with SCZ and 435 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and forced PCR-RFLP methods. We detected an association between SCZ and the rs6943555 genotype distribution (odds ratio (OR) = 1.363, 95% confidence interval (CI): 0.848–2.191, p = 0.001). The association remained significant after adjusting for gender, and a significant effect (p = 0.001) was observed among the females. In the present study, rs6943555 was determined to be associated with female SCZ. Our results confirm previous reports which have suggested that rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology.
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