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A polygenic risk score analysis of ASD and ADHD across emotion recognition subtypes
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2020-08-20 , DOI: 10.1002/ajmg.b.32818
Francesca Waddington 1, 2 , Barbara Franke 1, 2, 3 , Catharina Hartman 4 , Jan K Buitelaar 2, 5, 6 , Nanda Rommelse 2, 3, 5 , Nina Roth Mota 1, 2
Affiliation  

This study investigated the genetic components of ADHD and ASD by examining the cross-disorder trait of emotion recognition problems. The genetic burden for ADHD and ASD on previously identified emotion recognition factors (speed and accuracy of visual and auditory emotion recognition) and classes (Class 1: Average visual, impulsive auditory; Class 2: Average-strong visual & auditory; Class 3: Impulsive & imprecise visual, average auditory; Class 4: Weak visual & auditory) was assessed using ASD and ADHD polygenic risk scores (PRS). Our sample contained 552 participants: 74 with ADHD, 85 with ASD, 60 with ASD + ADHD, 177 unaffected siblings of ADHD or ASD probands, and 156 controls. ADHD- and ASD-PRS, calculated from the latest ADHD and ASD GWAS meta-analyses, were analyzed across these emotion recognition factors and classes using linear mixed models. Unexpectedly, the analysis of emotion recognition factors showed higher ASD-PRS to be associated with faster visual emotion recognition. The categorical analysis of emotion recognition classes showed ASD-PRS to be reduced in Class 3 compared to the other classes (p value threshold [pT] = 1, p = .021). A dimensional analysis identified a high ADHD-PRS reduced the probability of being assigned to the Class 1 or Class 3 (pT = .05, p = .028 and p = .044, respectively). Though these nominally significant results did not pass FDR correction, they potentially indicate different indirect causative chains from genetics via emotion recognition to ADHD and ASD, which need to be verified in future research.

中文翻译:

跨情绪识别亚型的 ASD 和 ADHD 的多基因风险评分分析

本研究通过检查情绪识别问题的交叉障碍特征来研究 ADHD 和 ASD 的遗传成分。ADHD 和 ASD 对先前确定的情绪识别因素(视觉和听觉情绪识别的速度和准确性)和类别(第 1 类:平均视觉、冲动听觉;第 2 类:中等强视觉和听觉;第 3 类:冲动)的遗传负担& 不精确的视觉,平均听觉;第 4 类:视觉和听觉弱)使用 ASD 和 ADHD 多基因风险评分 (PRS) 进行评估。我们的样本包含 552 名参与者:74 名患有 ADHD,85 名患有 ASD,60 名患有 ASD + ADHD,177 名未受影响的 ADHD 或 ASD 先证者兄弟姐妹,以及 156 名对照。ADHD-和 ASD-PRS,根据最新的 ADHD 和 ASD GWAS 荟萃分析计算得出,使用线性混合模型对这些情绪识别因素和类别进行了分析。出乎意料的是,对情绪识别因素的分析表明,更高的 ASD-PRS 与更快的视觉情绪识别相关。情绪识别类别的分类分析表明,与其他类别相比,第 3 类的 ASD-PRS 降低(p值阈值 [pT] = 1,p  = .021)。维度分析确定高 ADHD-PRS 降低了被分配到 1 级或 3 级的概率(分别为 pT = .05、p = .028 和p  = .044)。尽管这些名义上显着的结果没有通过 FDR 校正,但它们可能表明从遗传学到情绪识别到 ADHD 和 ASD 的不同间接致病链,这需要在未来的研究中进行验证。
更新日期:2020-08-20
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