Catechol-O-methyltransferase gene Val 108/158Met polymorphism, and susceptibility to schizophrenia:: association is more significant in women
Catechol-O-methyltransferase gene Val 108/158Met polymorphism, and susceptibility to schizophrenia:: association is more significant in women
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DOI：
10.1016/j.molbrainres.2004.09.005
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发表时间：
2004-12-06
期刊：
影响因子：
--
通讯作者：
Kara, I
中科院分区：
文献类型：
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作者：
Sazci, A;Ergul, E;Kara, I
精神分裂症是一种多基因遗传的复杂疾病。儿茶酚-O-甲基转移酶（COMT）在多巴胺能系统的调节中起着重要作用。COMT Val 108/158 Met的多态性与精神分裂症相关。我们研究了297例严格符合DSM-IV精神分裂症诊断标准的无亲缘关系精神分裂症患者和341例健康对照者的COMT Val 108/158 Met多态性的等位基因和基因型相关性。精神分裂症组与对照组的等位基因和基因型频率差异有显著性（χ 2 =13.030; P=0.001）。精神分裂症患者COMT-L基因的等位基因频率为45.79%，对照组为41.50%。COM-LL基因型频率在精神分裂症组为21.2%，对照组为11.4%（OR=2.085，95%CI =1.350-3.219，chi（2）=11.293，P=0.001）。在单独的性别分析中，COMT-L等位基因的频率在男性精神分裂症中中度分布（chi（2）=6.177; df=2; P=0.046）。COMT-LL基因型与精神分裂症的发病风险增加1.818倍（OR=1.818，95%CI =1.010-3.273，chi（2）=4.048，P=0.044）。COMT-L等位基因频率在女性精神分裂症中的分布更为显著（χ 2 =7.797; df=2; P=0.020）。COMT-LL基因型与精神分裂症的发病风险有显著性差异（OR=2.456，95% CI=1.287-4.687，chi（2）=7.710，P=0.005）。总之，我们的研究结果为COMT-L等位基因和LL基因型在精神分裂症的发病生理学中的作用提供了强有力的证据，具有性别差异。(C)2004 Elsevier B. V.保留所有权利。
Schizophrenia is a complex disorder with a polygenic inheritance. Catechol-O-methyltransferase (COMT) plays a significant role in the regulation of dopaminergic systems. A polymorphism at COMT Val108/158Met has been identified in association with schizophrenia. We examined the allele and genotype association of the COMT Val108/158Met polymorphism of 297 unrelated schizophrenic patients who strictly met DSM-IV criteria for schizophrenia, and 341 healthy controls. We found significant difference in allele and genotype frequencies between schizophrenic patients and controls (chi(2)=13.030; P=0.001). The allele frequency of the COMT-L was 45.79% in the total schizophrenic patients, and 41.50% in controls. The genotype frequency of the COM-LL was 21.2% in the total schizophrenic patients, and 11.4% in controls (OR=2.085; 95% CI=1.350-3.219; chi(2)=11.293; P=0.001). With a separate sex analysis, the frequency of the COMT-L allele was moderately distributed in male schizophrenia (chi(2)=6.177; df=2; P=0.046). The COMT-LL genotype had a 1.818-fold increased risk for schizophrenia (OR=1.818; 95% CI=1.010-3.273; chi(2)=4.048; P=0.044). The frequency of the COMT-L allele was even more significantly distributed in women schizophrenia (chi(2)=7.797; df=2; P=0.020). The COMT-LL genotype had remarkably more increased risk for schizophrenia (OR=2.456; 95% CI=1.287-4.687; chi(2)=7.710; P=0.005). In conclusion, our results provide strong evidence for a role of the COMT-L allele and LL genotype in the etiopathophysiology of schizophrenia with a sexual difference. (C) 2004 Elsevier B.V. All rights reserved.