Association of catechol-O-methyltransferase gene polymorphisms with schizophrenia and negative symptoms in a Chinese population.

Association of catechol-O-methyltransferase gene polymorphisms with schizophrenia and negative symptoms in a Chinese population.
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DOI:
10.1002/ajmg.b.32038
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发表时间:
2012-06
影响因子:
2.8
通讯作者:
Zhang, Xiang Yang
Zhang, Xiang Yang
中科院分区:
医学3区
文献类型:
--
作者:
Li, Wen Jun;Kou, Chang Gui;Yu, Yaqin;Sun, Shilong;Zhang, Xuan;Kosten, Thomas R.;Zhang, Xiang Yang

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编码儿茶酚O-甲基转移酶(COMT)的基因,多巴胺分解代谢酶,一直与精神分裂症不一致,尽管一致的证据表明,多巴胺能功能障碍,在前额叶皮层(PFC)的精神分裂症。由于这种不一致性的一个贡献可能是遗传异质性,本研究调查是否COMT基因与精神分裂症的发展和症状在相对遗传同质的中国精神分裂症患者。我们分析了两个多态性(rs740603和rs 4818)的COMT基因在604例汉族人(284例患者和320名对照)的病例对照研究。采用阳性和阴性症状量表(PANSS)评定患者的精神病理学。我们发现患者组和对照组之间的rs740603和rs 4818基因型和等位基因分布没有显著差异。UNPHASED程序的数量性状分析显示,rs740603和rs740603(G)-rs 4818(G)单倍型与精神分裂症患者的阴性症状相关,特别是在女性患者中。因此,COMT基因多态性可能与精神分裂症易感性无关,但可能与精神分裂症阴性症状有关。
The gene encoding Catechol O-methyltransferase (COMT), a dopamine catabolic enzyme, has been associated inconsistently with schizophrenia in spite of consistent evidence for dopaminergic dysfunction in the prefrontal cortex (PFC) of schizophrenia. Since one contribution to this inconsistency might be genetic heterogeneity, this study investigated whether the COMT gene was associated with the development and symptoms of schizophrenia in relatively genetically homogeneous Chinese schizophrenic patients. We analyzed two polymorphisms (rs740603 and rs4818) of the COMT gene in a case–control study of 604 Han Chinese (284 patients and 320 controls). The patients’ psychopathology was assessed using the Positive and Negative Syndrome Scale (PANSS). We found no significant differences in the rs740603 and rs4818 genotype and allele distributions between the patient and control groups. Quantitative trait analysis by the UNPHASED program showed that the rs740603 and rs740603(G)-rs4818(G) haplotypes were associated with negative symptoms in the schizophrenic patients, particularly among female patients. Thus, the COMT gene polymorphisms may not contribute to the susceptibility to schizophrenia, but may contribute to the negative symptoms of schizophrenia among Han Chinese.
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