A missense I394T Variant in Human Melanopsin Gene is Associated with Non-Image Forming Responses, including Pupillary Light Reflex and Sleep/Wake Timing = A missense I394T Variant in Human Melanopsin Gene is Associated with Non-Image Forming Responses, including Pupillary Light Reflex and Sleep/Wake Timing

다국어 초록 (Multilingual Abstract)

Melanopsin, a new photoreceptor, plays an important role in non-image forming (NIF) responses, such as circadian photoentrainment, light-induced melatonin suppression, pupillary light reflex, and sleep habits. In humans, a small subset of retinal ganglion cells express the photopigment melanopsin. There are single nucleotide polymorphisms (SNPs) in human melanopsin (OPN4) gene, indicating that the genetic variations could influence the function of melanopsin. However, the association of OPN4 gene SNPs with NIF responses remains unknown. Hence, the aim of this study was to determine the association between OPN4 gene polymorphisms and NIF responses, including pupillary light reflex and sleep habits. A missense variant I394T (rs1079610) which is an amino acid-changing SNP was considered, and the genotypes of I394T were classified as TT, TC, or CC. As a first step, we examined whether there is an association between I394T SNP and pupillary light reflex (PLR) in Japanese young university students.