Estrogen receptor alpha (ESR-1) associations with psychological traits in women with PMDD and controls.
Estrogen receptor alpha (ESR-1) associations with psychological traits in women with PMDD and controls.
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DOI：
10.1016/j.jpsychires.2010.01.013
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发表时间：
2010-09
影响因子：
4.8
通讯作者：
Rubinow DR
中科院分区：
文献类型：
--
作者：
Miller A;Vo H;Huo L;Roca C;Schmidt PJ;Rubinow DR
经前焦虑障碍（PMDD）是一种情绪障碍，影响约5%的妇女，并与大量的发病率。尽管不一致，PMDD被描述为具有遗传性人格特征。虽然PMDD是一种遗传性疾病，但尚不清楚PMDD的遗传易感性是否存在于遗传性人格特征中。在PMDD（n=68）和对照组（n=56）中，我们试图确定是否可以确认诊断相关的特征，以及确定这些特征是否与我们先前证明与PMDD相关的雌激素受体α（ESR-1）的SNP相关。我们观察到7/25个性状在患者和对照组中存在显著差异，并进一步表明，在这7个性状和16个ESR-1 SNP之间观察到的11/12个显著关联涉及内含子4 SNP，该内含子4 SNP先前被证明是与PMDD关联的位点。虽然观察到基因型和诊断之间的一些相互作用，但在大多数情况下，基因型的影响在患者和对照组中是相同的方向。这些数据表明，情感状态独立的人格特质，区分与控制PMDD患者，并进一步支持ESR-1多态性变异的非生殖行为的调节的相关性。
Premenstrual Dysphoric Disorder (PMDD) is a mood disorder affecting about 5% of women and is associated with substantial morbidity. Albeit inconsistently, PMDD is described as being characterized by heritable personality traits. Although PMDD is a heritable disorder, it is unclear whether any of the heritable susceptibility to PMDD resides in heritable personality traits. In groups of carefully characterized women with PMDD (n=68) and controls (n=56), we attempted to determine whether diagnosis-related traits could be confirmed, as well as to determine whether such traits were associated with SNPs in estrogen receptor alpha (ESR-1) that we previously demonstrated were associated with PMDD. We observed 7/25 traits to be significantly different in patients and controls and further showed that 11/12 significant associations observed between these 7 traits and 16 ESR-1 SNPs involved the intron 4 SNPs previously shown to be the locus of the association with PMDD. While several interactions between genotype and diagnosis were observed, the effect of genotype in most instances was in the same direction in patients and controls. These data demonstrate affective state-independent personality traits that distinguish patients with PMDD from controls and further support the relevance of ESR-1 polymorphic variants in the regulation of non-reproductive behaviors.
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