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Investigation of Phenotypes Associated with Mood and Anxiety Among Male and Female Fragile X Premutation Carriers

机译：男性和女性脆性X突变载体中与情绪和焦虑相关的表型研究

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The fragile X disorder spectrum, due to a CGG expansion in FMR1, includes fragile X syndrome (>200 repeats) and the premutation-associated disorders of ovarian insufficiency and tremor/ataxia syndrome (~55–199 repeats). Altered neurobehavioral profiles including variation of phenotypes associated with mood and anxiety may be expected among younger premutation carriers given this spectrum of disorders. However, previous studies have produced conflicting findings, providing the motivation to examine these phenotypes further. We investigated measures of mood and anxiety in 119 males and 446 females age 18–50 ascertained from families with a history of fragile X syndrome and from the general population. Scores were analyzed using a linear model with repeat length as the main predictor, adjusting for potential confounders. Repeat length was not associated with anxiety, but was marginally associated with depression and negative affect in males and negative affect only in females. These results suggest that premutation carriers may be at risk for emotional morbidity; however, phenotypic differences were subtle and of small effect size.
机译：由于FMR1中CGG的扩展，脆性X紊乱谱包括脆性X综合征（重复次数大于200）和卵巢功能不全和震颤/共济失调综合征的突变前相关疾病（大约55-199重复）。考虑到这种疾病谱，在年轻的突变前携带者中可以预期神经行为特征发生变化，包括与情绪和焦虑相关的表型变化。但是，先前的研究得出了相互矛盾的发现，为进一步研究这些表型提供了动力。我们调查了从具有脆弱X综合征史的家庭和普通人群中确定的119位年龄在18-50岁的男性和446位女性中的情绪和焦虑的度量。使用具有重复长度的线性模型作为主要预测因子来分析分数，并针对潜在的混杂因素进行了调整。重复长度与焦虑无关，但与男性抑郁和负面影响略相关，仅对女性负面影响。这些结果表明，突变前携带者可能有患情绪疾病的风险。然而，表型差异是微妙的，影响大小较小。

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