Lucio-Enríquez Kevin R, Rubio-Valles Mariazel, Ramos-Jiménez Arnulfo, Pérez-León Jorge A
Chemical Biological Sciences PhD Graduate Program, Department of Chemical Sciences, Biomedical Sciences Institute, Ciudad Juarez Autonomous University, Chihuahua, Mexico.
Physical Activity Sciences for Health PhD Graduate Program, Faculty of Physical Culture Sciences, Chihuahua Autonomous University, Chihuahua, Mexico.
Front Neurosci. 2025 Jun 10;19:1581266. doi: 10.3389/fnins.2025.1581266. eCollection 2025.
The melanopsin (OPN4) gene is crucial in visual and non-visual processes. Certain single-nucleotide polymorphisms (SNPs) of this gene have been linked to altered light sensitivity, photoentrainment, sleep disorders, and metabolic problems, which suggests a systemic effect of light exposure. The aim of this systematic review is to explore the current literature regarding the OPN4 gene and its SNPs, along with their associations with health-related problems. The literature search was conducted in PubMed and ScienceDirect databases using the following key terms: ("Melanopsin" OR "OPN4" OR "Opsin 4") AND ("Polymorphism" OR "SNP" OR "Variant"). The publications were from January 1998 to February 2025. We identified 763 studies, and after screening titles, abstracts, full texts, and the inclusion and exclusion criteria, nine studies were included in the review. The review was conducted by two independent reviewers following the PRISMA guidelines. Our review revealed that some SNPs of the OPN4 gene, such as P10L, I394T, and R168C, are associated with affective states, changes in chronotype, and sleep disorders: P10L variant has been associated to seasonal affective disorder (SAD), chronotype, and chronic insomnia; I394T variant has been linked to the pupillary light response (PLR) and sleep/wake timing, while R168C variant has been associated with delayed sleep-wake phase disorder (DSWPD). Currently, the remaining SNPs have no reported associations, and the existing literature does not describe any specific molecular mechanisms through which these variants could modulate or alter OPN4 function. Future research should aim to explore these identified SNPs with alternative associations related to OPN4 functions.
黑视蛋白（OPN4）基因在视觉和非视觉过程中至关重要。该基因的某些单核苷酸多态性（SNP）与光敏感性改变、光同步化、睡眠障碍和代谢问题有关，这表明光照具有全身性影响。本系统综述的目的是探讨有关OPN4基因及其SNP的当前文献，以及它们与健康相关问题的关联。使用以下关键词在PubMed和ScienceDirect数据库中进行文献检索：（“黑视蛋白”或“OPN4”或“视蛋白4”）以及（“多态性”或“SNP”或“变体”）。出版物发表时间为1998年1月至2025年2月。我们共识别出763项研究，经过对标题、摘要、全文以及纳入和排除标准的筛选，9项研究被纳入本综述。本综述由两名独立审稿人按照PRISMA指南进行。我们的综述发现，OPN4基因的一些SNP，如P10L、I394T和R168C，与情感状态、昼夜节律类型变化和睡眠障碍有关：P10L变体与季节性情感障碍（SAD）、昼夜节律类型和慢性失眠有关；I394T变体与瞳孔光反应（PLR）以及睡眠/觉醒时间有关，而R168C变体与睡眠-觉醒相位延迟障碍（DSWPD）有关。目前，其余SNP尚未有相关报道，现有文献也未描述这些变体可能调节或改变OPN4功能的任何具体分子机制。未来的研究应旨在探索这些已识别的与OPN4功能相关的其他关联SNP。
