Background: There is mixed evidence for an association between autism spectrum disorder (ASD) and emotion recognition deficits. We sought to assess the bidirectionality of this association using phenotypic and genetic data in a large community sample. Methods: Analyses were conducted in three stages. First, we examined the bidirectional association between autistic traits at age 8 years and emotion recognition task (ERT) responses at age 24 years (Study 1; N=3,562); and between Diagnostic Analysis of Non-Verbal Accuracy (DANVA) emotion recognition responses at age 8 years and autistic traits at age 10 years (Study 2; N=9,071). Next, we used genetic analyses (Study 3) to examine the association between polygenic risk scores for ASD and these phenotypes. The genetic correlation between ASD and ERT responses at age 24 was also estimated. Analyses were conducted in the Avon Longitudinal Study of Parents and Children. Results: Autistic traits at age 8 years were negatively associated with later total correct responses on ERT in Study 1 (b=-0.18; 95% CI: -0.27 to -0.09). We also found evidence of an association in Study 2 (b=-0.04; 95% CI: -0.05 to -0.03). We found the opposite association i.e., positive, between the ASD polygenic risk score and ERT (b=0.40; 95% CI: 0.10 to 0.70); however, this association varied across different p-value thresholds so should be interpreted with caution. We did not find evidence of a genetic correlation between ASD and ERT. Conclusion: We found an observational association between poorer emotion recognition and increased autistic traits. Our genetic analyses revealed an association between ASD polygenic risk and the ERT outcome, which may suggest a shared genetic aetiology between these or a potential causal pathway. Our results may inform interventions targeting emotion recognition.

中文翻译：

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使用观察和遗传分析研究情绪识别与自闭症特征之间的双向关联

背景：自闭症谱系障碍（ASD）与情绪识别缺陷之间存在关联的混合证据。我们试图使用一个大型社区样本中的表型和遗传数据来评估这种关联的双向性。方法：分三个阶段进行分析。首先，我们研究了8岁时自闭症特征与24岁时情感识别任务（ERT）反应之间的双向关联（研究1； N = 3,562）；以及在8岁时非言语准确性（DANVA）情绪识别反应的诊断分析与10岁时的自闭症特征之间的差异（研究2； N = 9,071）。接下来，我们使用遗传分析（研究3）来检查ASD的多基因风险评分与这些表型之间的关联。还估计了24岁时ASD和ERT反应之间的遗传相关性。在父母和子女的雅芳纵向研究中进行了分析。结果：研究1中8岁时的自闭症特征与后来对ERT的总体正确反应呈负相关（b = -0.18； 95％CI：-0.27至-0.09）。我们还在研究2中发现了关联的证据（b = -0.04； 95％CI：-0.05至-0.03）。我们发现ASD多基因风险评分与ERT之间存在相反的关联，即呈正相关（b = 0.40； 95％CI：0.10至0.70）；但是，这种关联在不同的p值阈值之间有所不同，因此应谨慎解释。我们没有发现ASD和ERT之间存在遗传相关性的证据。结论：我们发现较差的情绪识别与自闭症特征增加之间存在观察联系。我们的基因分析显示，ASD多基因风险与ERT结果之间存在关联，这可能暗示着这些病因之间存在共同的遗传病因或潜在的病因途径。我们的结果可能有助于针对情绪识别的干预措施。