National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, 20892, USA.
Sci Rep. 2024 Nov 18;14(1):28421. doi: 10.1038/s41598-024-79527-4.
Pupil size and blink rates are heritable but the extent to which they interact with one another has not been properly investigated. Though changes in pupil size due to eye blinks have been reported, they are considered a pupillary artifact. In this study we used the HCP 7T fMRI dataset with resting state eye-tracking data obtained in monozygotic and dizygotic twins to assess their heritability and their interactions. For this purpose, we characterized the pupil dilation (positive peak) and constriction (negative peak) that followed blink events, which we describe as blink-induced pupillary response (BIPR). We show that the BIPR is highly consistent with a positive dilatory peak (D-peak) around 500ms and a negative constricting peak (C-peak) around 1s. These patterns were reproducible within- and between-subjects across two time points and differed by vigilance state (vigilant versus drowsy). By comparing BIPR between monozygotic and dizygotic twins we show that BIPR have a heritable component with significant additive genetic (A) and environmental (E) factors dominating the structural equation models, particularly in the time-domain for both D- and C-peaks (a between 42 and 49%) and shared effects (C) as observed in the amplitude domain for the C-peak. Blink duration, pupil size and blink rate were also found to be highly heritable (a up to 62% for pupil size). Our study provides evidence of that shared environmental and additive genetic factors influence BIPR and indicates that BIPR should not be treated as a coincidental artefact. Instead BIPR appears to be a component of a larger oculomotor system that we label here as Oculomotor Adaptive System, that is genetically determined.
瞳孔大小和眨眼频率是可遗传的，但它们之间的相互作用程度尚未得到适当研究。尽管已经报道了由于眨眼导致的瞳孔大小变化，但它们被认为是瞳孔伪影。在这项研究中，我们使用了 HCP 7T fMRI 数据集和单卵双胞胎和双卵双胞胎的静息状态眼动追踪数据，以评估它们的遗传性及其相互作用。为此，我们描述了跟随眨眼事件的瞳孔扩张（正峰）和收缩（负峰），我们将其描述为眨眼诱导的瞳孔反应（BIPR）。我们表明，BIPR 高度符合大约 500ms 的正扩张峰（D-峰）和大约 1s 的负收缩峰（C-峰）。这些模式在两个时间点内和之间的主体内都是可重复的，并且通过警觉状态（警觉与困倦）而有所不同。通过比较单卵双胞胎和双卵双胞胎之间的 BIPR，我们表明 BIPR 具有遗传成分，具有显著的加性遗传（A）和环境（E）因素主导结构方程模型，特别是在 D-和 C-峰的时间域（a 为 42%至 49%）以及在 C-峰的幅度域中观察到的共享效应（C）。眨眼持续时间、瞳孔大小和眨眼频率也被发现具有高度遗传性（a 高达 62%的瞳孔大小）。我们的研究提供了证据表明，共享环境和加性遗传因素影响 BIPR，并表明 BIPR 不应被视为偶然的伪影。相反，BIPR 似乎是一个更大的眼动系统的组成部分，我们在这里将其标记为眼动自适应系统，它是由遗传决定的。
