Association of estrogen receptor alpha gene polymorphism with age at onset, general psychopathology symptoms, and therapeutic effect of schizophrenia.
Association of estrogen receptor alpha gene polymorphism with age at onset, general psychopathology symptoms, and therapeutic effect of schizophrenia.
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雌激素受体α基因多态性与精神分裂症发病年龄、一般精神病理学症状和治疗效果的关系
DOI：
10.1186/1744-9081-9-12
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发表时间：
2013-03-15
期刊：
影响因子：
--
通讯作者：
Lv L
中科院分区：
文献类型：
--
作者：
Wang S;Li W;Zhao J;Zhang H;Yang Y;Wang X;Yang G;Lv L
雌激素被认为在中枢神经系统（CNS）中发挥重要作用，并对精神分裂症发挥保护作用。雌激素受体α (ESRα)介导雌激素的生物学作用。ESRα单核苷酸多态性Rs2234693和rs9340799可能与许多精神疾病有关，但其与精神分裂症的关系尚未明确。在303名精神分裂症患者和292名健康对照中检测到rs2234693和rs9340799基因型。采用阳性和阴性证候量表（PANSS）评估症状和治疗效果。通过卡方检验、方差分析和其他方法分析这些多态性与精神分裂症和临床特征的关系。rs2234693和rs9340799的基因型分布和等位基因频率在患者和对照组之间无显著差异，但由这些多态性组成的单倍型存在显著差异。对于2234693，t等位基因携带者的发病年龄更早。cc纯合子携带者在男性和偏执患者中具有更高的一般精神病理评分和其百分比下降。cc纯合子携带者有较高的张力（G4）和较差的冲动控制（G14）评分，主要见于偏执患者。此外，CC纯合子患者分别接受阿立哌唑和利培酮治疗时，G4和G14评分的降低程度更高。由这两种ESRα多态性组成的单倍型可能与精神分裂症密切相关。rs2234693与发病年龄、一般精神病理、G4、G14症状甚至不同组间的治疗效果有关。
Estrogen is believed to play an important role in the central nervous system (CNS) and exert a protective role against schizophrenia. Estrogen receptor alpha (ESRα) mediates the biological action of estrogen. Rs2234693 and rs9340799, single nucleotide polymorphisms of ESRα, may be related to many psychiatric disorders, while their association with schizophrenia has not been clarified. Genotypes rs2234693 and rs9340799 were detected in 303 schizophrenic patients and 292 healthy controls in a Chinese population. The positive and negative syndrome scale (PANSS) was used to estimate symptoms and therapeutic effects. The association of these polymorphisms with schizophrenia and clinical characteristics was analyzed by the chi-square test, analysis of variance, and others. The distribution of genotypes and allele frequencies of rs2234693 and rs9340799 exhibited no significant differences between patients and controls, while haplotypes consisting of these polymorphisms had significant differences. For 2234693, T-allele carriers had an earlier age at onset. CC-homozygote carriers had a higher general psychopathology score and its percentage reduction in male and paranoid patients, respectively. CC-homozygote carriers had a higher tension (G4) and poor impulse control (G14) score, mainly in paranoid patients. Furthermore, patients with the CC homozygote had higher reductions of G4 and G14 scores when treated by aripirazole and risperidone, respectively. Haplotypes consisting of these two polymorphisms in ESRα may be strongly associated with schizophrenia. The rs2234693 was related to age at onset, general psychopathology, G4 and G14 symptoms, even the therapeutic effect in different groups.
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影响因子：
0.9
作者：
Anttila, S;Kampman, O;Leinonen, E
通讯作者：
Leinonen, E
影响因子：
0.9
作者：
Ouyang, WC;Wang, YC;Tsai, SJ
通讯作者：
Tsai, SJ
DOI：
10.1002/ajmg.b.32038
发表时间：
2012-06
影响因子：
2.8
作者：
Li, Wen Jun;Kou, Chang Gui;Yu, Yaqin;Sun, Shilong;Zhang, Xuan;Kosten, Thomas R.;Zhang, Xiang Yang
通讯作者：
Zhang, Xiang Yang
影响因子：
--
作者：
Bollig, A;Miksicek, RJ
通讯作者：
Miksicek, RJ
影响因子：
10.5
作者：
HAFNER, H;MAURER, K;RIECHERROSSLER, A
通讯作者：
RIECHERROSSLER, A