Mill Jonathan, Kiss Eniko, Baji Ildiko, Kapornai Krisztina, Daróczy Gabriella, Vetró Agnes, Kennedy James, Kovacs Maria, Barr Cathy
Toronto Western Research Institute, University Health Network, Toronto, Ontario, Canada.
Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1323-6. doi: 10.1002/ajmg.b.30751.
Depressive disorders are heterogeneous psychiatric disorders involving deficits in cognitive, psychomotor, and emotional processing. Depressive disorders have a significant genetic component, with severe, recurrent and early-onset forms demonstrating elevated heritability. In this study we genotyped eleven single nucleotide polymorphisms (SNPs) spanning the estrogen receptor alpha gene (ESR1) in a large family-based childhood-onset mood disorder (COMD) sample. None of the individual SNP or global haplotype analyses was significant in the entire COMD sample, but haplotype analysis of three SNPs in strong linkage disequilibrium (rs746432, rs2077647, and rs532010) uncovered an association with COMD, specifically in females. Our data are consistent with previous studies demonstrating a female-specific association between ESR1 and neurobehavioral phenotypes. These results suggest the existence of sex-specific etiological factors in depressive disorders, related to estrogen, with onset in childhood.
抑郁症是一类异质性精神障碍，涉及认知、精神运动和情感加工方面的缺陷。抑郁症具有显著的遗传成分，严重、复发性和早发性形式表现出更高的遗传度。在本研究中，我们对一个基于家系的儿童期起病情绪障碍（COMD）大样本中的11个单核苷酸多态性（SNP）进行了基因分型，这些SNP跨越雌激素受体α基因（ESR1）。在整个COMD样本中，单个SNP或整体单倍型分析均无显著意义，但对处于强连锁不平衡状态的3个SNP（rs746432、rs2077647和rs532010）进行单倍型分析发现与COMD存在关联，特别是在女性中。我们的数据与先前的研究一致，这些研究表明ESR1与神经行为表型之间存在女性特异性关联。这些结果表明，抑郁症中存在与雌激素相关的、始于儿童期的性别特异性病因因素。
