心理学
内表型
遗传力
瞳孔测量
精神分裂症(面向对象编程)
双胞胎研究
双相情感障碍
瞳孔光反射
自闭症谱系障碍
自闭症
小学生
发展心理学
精神科
认知
神经科学
遗传学
生物
作者
Ana Maria Portugal,Mark J. Taylor,Charlotte Viktorsson,Pär Nyström,Danyang Li,Kristiina Tammimies,Angelica Ronald,Terje Falck‐Ytter
摘要
Background Measures based on pupillometry, such as the pupillary light reflex (PLR) and baseline pupil size, reflect physiological responses linked to specific neural circuits that have been implicated as atypical in some psychiatric and neurodevelopmental conditions. Methods We investigated the contribution of genetic and environmental factors to the baseline pupil size and the PLR in 510 infant twins assessed at 5 months of age (281 monozygotic and 229 dizygotic pairs), and its associations with common genetic variants associated with neurodevelopmental (autism spectrum disorder and attention deficit hyperactivity disorder) and mental health (bipolar disorder, major depressive disorder and schizophrenia) conditions using genome‐wide polygenic scores (GPSs). Results Univariate twin modelling showed high heritability at 5 months for both pupil size ( h 2 = .64) and constriction in response to light ( h 2 = .62), and bivariate twin modeling indicated substantial independence between the genetic factors influencing each ( r G = .38). A statistically significant positive association between infant tonic pupil size and the GPS for schizophrenia was found (β = .15, p = .024), while there was no significant association with the GPS for autism or any other GPSs. Conclusions This study shows that some pupil measures are highly heritable in early infancy, although substantially independent in their genetic etiologies, and associated with common genetic variants linked to schizophrenia. It illustrates how genetically informed studies of infants may help us understand early physiological responses associated with psychiatric disorders which emerge much later in life.
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