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意大利人群情绪障碍中儿茶酚-O-甲基转移酶基因变异

Catechol-O-methyltransferase gene variants in mood disorders in the Italian population.

作者信息

Serretti Alessandro, Rotondo Alessandro, Lorenzi Cristina, Smeraldi Enrico, Cassano Gian Battista

机构信息

Department of Psychiatry, San Raffaele Scientific Institute, Milan, Italy.

出版信息

Psychiatr Genet. 2006 Oct;16(5):181-2. doi: 10.1097/01.ypg.0000218625.88504.f1.

DOI:10.1097/01.ypg.0000218625.88504.f1
PMID:16969269
Abstract

Dysfunctions of dopaminergic transmission have been implicated in the pathogenesis of mood disorders and variants at the catechol-O-methyltransferase (COMT) gene have been recently reported to be associated with bipolar disorder. In this study, we tried to replicate this finding in an independent sample of participants affected by mood disorders. Eight hundred and five psychiatric in-patients affected by bipolar (n=446) and major depressive (n=359) disorder were included. All patients and 116 controls were typed for the COMT variants using polymerase chain reaction techniques. A subsample of 458 patients was assessed for their lifetime symptomatology. The sample was analyzed alone and pooled with 111 participants and 127 controls collected in the center of Pisa and previously reported. COMT variants were not associated with mood disorders in our sample, a trend was observed toward an excess of COMT*A allele in the pooled sample. The analysis of symptomatology factors did not show any significant difference as well. Possible stratification factors such as sex, current age and age of onset did not affect the observed results. Control subjects from the two centers showed a similar genotype distribution. In conclusion, COMT variants were not a major liability factor for mood disorder and for mood disorder symptomatology in the present sample; however, we could not subdivide our sample on the basis of panic comorbidity as in the original paper and this could be considered a possible reason for the discrepant finding.

摘要

多巴胺能传递功能障碍与情绪障碍的发病机制有关,最近有报道称儿茶酚-O-甲基转移酶(COMT)基因的变异与双相情感障碍有关。在本研究中,我们试图在受情绪障碍影响的独立样本参与者中重复这一发现。纳入了805名患有双相情感障碍(n = 446)和重度抑郁症(n = 359)的精神科住院患者。使用聚合酶链反应技术对所有患者和116名对照进行COMT变异分型。对458名患者的子样本进行了终生症状评估。该样本单独进行分析,并与在比萨中心收集的111名参与者和127名对照合并,这些数据先前已报道。在我们的样本中,COMT变异与情绪障碍无关,在合并样本中观察到COMT*A等位基因有增多的趋势。症状学因素分析也未显示任何显著差异。性别、当前年龄和发病年龄等可能的分层因素并未影响观察结果。两个中心的对照受试者显示出相似的基因型分布。总之,在本样本中,COMT变异不是情绪障碍和情绪障碍症状学的主要危险因素;然而,我们无法像原论文那样根据惊恐共病对样本进行细分,这可能是导致结果不一致的一个可能原因。

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