Ayeisha Milligan Armstrong, Eleanor O'Brien, Tenielle Porter, Vincent Dore, Pierrick Bourgeat, Paul Maruff, Christopher C Rowe, Victor L Villemagne, Stephanie R Rainey-Smith, Simon M Laws
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Further analyses assessed whether sleep traits x <i>OPN4</i> SNP interactions were associated with markers of brain health.</p><p><strong>Results: </strong><i>OPN4</i> SNPs rs2355009 and rs3740334 were associated with attention and processing speed and ventricular volume and language, respectively. Furthermore, rs3740334 and rs1079610 showed significant interactions with sleep traits in association with language.</p><p><strong>Discussion: </strong>This study shows associations of <i>OPN4</i> genetic variants with markers of brain health, and suggests that these variants interact with sleep to exacerbate cognitive effects.</p><p><strong>Highlights: </strong>The relationships between melanopsin gene (<i>OPN4</i>) variants and markers of brain health were examined cross-sectionally in cognitively unimpaired older individuals.Variation within <i>OPN4</i>is associated with differences in cognition and ventricular volume.rs2355009 and rs3740334 show small-moderate associations with differences in attention and processing speed. 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引用次数: 0
摘要
黑视素是一种光色素，在调节睡眠和昼夜节律相关过程中起作用，这些过程在阿尔茨海默病（AD）中经常被破坏。黑视素也影响认知和突触发生。这项研究调查了黑视素基因变异、睡眠和大脑健康标志物之间的关系。方法：线性回归分析黑视素基因（OPN4）内的单核苷酸多态性（snp）与皮质淀粉样蛋白β (Aβ)、认知、脑容量和自我报告的睡眠特征之间的关系。进一步的分析评估了睡眠特征与OPN4 SNP相互作用是否与大脑健康标志物相关。结果：OPN4 snp rs2355009和rs3740334分别与注意和加工速度、心室容积和语言相关。此外，rs3740334和rs1079610与语言相关的睡眠特征表现出显著的相互作用。讨论：这项研究显示了OPN4基因变异与大脑健康标志物的关联，并表明这些变异与睡眠相互作用，加剧认知影响。重点：在认知功能未受损的老年人中，横断面研究了黑视素基因（OPN4）变异与大脑健康标志物之间的关系。opn4的变异与认知和心室容积的差异有关。Rs2355009和rs3740334与注意和加工速度差异呈小-中度相关。此外，rs2355009和rs3740334分别与心室容积和语言表现相关。rs3740334和rs1079610与睡眠特征之间的相互作用也显示出与语言表现差异的中小型关联。
Exploring the relationship between melanopsin gene variants, sleep, and markers of brain health.
Introduction: Melanopsin is a photopigment with roles in mediating sleep and circadian-related processes, which are often disrupted in Alzheimer's disease (AD). Melanopsin also impacts cognition and synaptogenesis. This study investigated the associations between melanopsin genetic variants, sleep, and markers of brain health.
Methods: Linear regression analyses examined the relationship of single-nucleotide polymorphisms (SNPs) within the melanopsin gene (OPN4), with cortical amyloid beta (Aβ), cognition, brain volumes, and self-reported sleep traits in cognitively unimpaired older adults. Further analyses assessed whether sleep traits x OPN4 SNP interactions were associated with markers of brain health.
Results: OPN4 SNPs rs2355009 and rs3740334 were associated with attention and processing speed and ventricular volume and language, respectively. Furthermore, rs3740334 and rs1079610 showed significant interactions with sleep traits in association with language.
Discussion: This study shows associations of OPN4 genetic variants with markers of brain health, and suggests that these variants interact with sleep to exacerbate cognitive effects.
Highlights: The relationships between melanopsin gene (OPN4) variants and markers of brain health were examined cross-sectionally in cognitively unimpaired older individuals.Variation within OPN4is associated with differences in cognition and ventricular volume.rs2355009 and rs3740334 show small-moderate associations with differences in attention and processing speed. Further to this, rs2355009 and rs3740334 were associated with ventricular volumes and language performance, respectively.The interactions between rs3740334 and rs1079610 and sleep traits also showed small-moderate associations with differences in language performance.
期刊介绍：
Alzheimer''s & Dementia: Diagnosis, Assessment & Disease Monitoring (DADM) is an open access, peer-reviewed, journal from the Alzheimer''s Association® that will publish new research that reports the discovery, development and validation of instruments, technologies, algorithms, and innovative processes. Papers will cover a range of topics interested in the early and accurate detection of individuals with memory complaints and/or among asymptomatic individuals at elevated risk for various forms of memory disorders. The expectation for published papers will be to translate fundamental knowledge about the neurobiology of the disease into practical reports that describe both the conceptual and methodological aspects of the submitted scientific inquiry. Published topics will explore the development of biomarkers, surrogate markers, and conceptual/methodological challenges. Publication priority will be given to papers that 1) describe putative surrogate markers that accurately track disease progression, 2) biomarkers that fulfill international regulatory requirements, 3) reports from large, well-characterized population-based cohorts that comprise the heterogeneity and diversity of asymptomatic individuals and 4) algorithmic development that considers multi-marker arrays (e.g., integrated-omics, genetics, biofluids, imaging, etc.) and advanced computational analytics and technologies.
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