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Exploring the relationship between melanopsin gene variants, sleep, and markers of brain health
Journal article   Open access   Peer reviewed

Exploring the relationship between melanopsin gene variants, sleep, and markers of brain health

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, …
Alzheimer's & dementia : diagnosis, assessment & disease monitoring, Vol.17(1), e70056
2025
PMID: 39822292
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CC BY V4.0 Open Access

Abstract

melanopsin sleep amyloid cognition MRI
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.

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