Association Study of Tryptophan Hydroxylase-2 Gene in Schizophrenia and Its Clinical Features in Chinese Han Population

Association Study of Tryptophan Hydroxylase-2 Gene in Schizophrenia and Its Clinical Features in Chinese Han Population
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中国汉族人群色氨酸羟化酶2基因与精神分裂症及其临床特征的关联研究

DOI:
10.1007/s12031-010-9458-2
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发表时间:
2011-03
影响因子:
3.1
通讯作者:
Yu, Shunying
Yu, Shunying
中科院分区:
医学4区
文献类型:
--
作者:
Zhang, Chen;Li, Zezhi;Shao, Yang;Xie, Bin;Du, Yasong;Fang, Yiru;Yu, Shunying

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精神分裂症是一种慢性、严重的精神疾病,其特征是发展出各种有害的临床特征,其病因至今仍不清楚。基于神经生物学和药理学研究的证据,中枢神经递质传递功能障碍可能参与精神分裂症的发生。色氨酸羟化酶2(Tryptophan hydroxylase 2,TPH 2)是新近发现的色氨酸羟化酶(5-羟色胺合成的限速酶)的一种同工酶,调节脑特异性5-羟色胺的合成。为了进一步阐明TPH 2在这种疾病中的作用,我们进行了一项病例对照研究,以检查TPH 2基因与精神分裂症及其临床特征的关联。我们对该基因内的三个假定的功能多态性(rs4570625、rs7305115和rs4290270)进行了基因分型,并对304名精神分裂症患者和362名健康受试者进行了病例对照研究。采用阳性和阴性症状量表(PANSS)评估精神病性症状的严重程度。rs4570625、rs7305115和rs4290270的基因型和等位基因频率在精神分裂症患者和对照组之间没有显著差异。然而,PANSS阳性症状亚核心与rs4570625显著相关(P = 0.022)。提示TPH2基因rs4570625位点可能在汉族精神分裂症患者阳性症状的发生中起重要作用。
Schizophrenia is a chronic and severe mental illness which is characterized by the development of various detrimental clinical features, and its etiology still remains unknown. Based on the evidence from neurobiological and pharmacological research, dysfunctions in central serotonergic transmission may be involved in the development of schizophrenia. Tryptophan hydroxylase 2 (TPH2), a newly identified isoform of tryptophan hydroxylase (the rate limiting enzyme in the biosynthesis of serotonin), regulates the brain-specific serotonin synthesis. To further clarify the role of TPH2 in this disease, we performed a case-control study to examine the association of the TPH2 gene with schizophrenia and its clinical features. We genotyped three putative functional polymorphisms (rs4570625, rs7305115, and rs4290270) within the gene and carried out a case-control study consisting of 304 schizophrenia patients and 362 healthy subjects. The severity of psychotic symptoms was assessed using the Positive and Negative Syndrome Scale (PANSS). The frequencies of genotypes and alleles of rs4570625, rs7305115, and rs4290270 did not differ significantly between schizophrenic patients and controls. However, the PANSS positive symptom subcore was significantly associated with rs4570625 (P= 0.022). These results suggest that rs4570625 ofTPH2may play an important role in the development of positive symptoms in Han Chinese schizophrenic patients.
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