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Open Access Original article

Association between melanopsin gene polymorphism (I394T) and pupillary light reflex is dependent on light wavelength

Sang-il Lee1, Akiko Hida2, Sei-ichi Tsujimura3, Takeshi Morita4, Kazuo Mishima2 and Shigekazu Higuchi1*

Author Affiliations

1 Department of Human Science, Faculty of Design, Kyushu University, 4-9-1 Shiobaru, Minami-ku, Fukuoka 815-8540, Japan

2 Department of Psychophysiology, National Institute of Mental Health, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8553, Japan

3 Department of Information Science and Biomedical Engineering, Kagoshima University, 1-21-40 Korimoto Kagoshima, Kagoshima 890-0065, Japan

4 Department of Living Environmental Science, Fukuoka women’s University, 1-1-1, Kasumigaoka, Higashi-ku, Fukuoka 813-8529, Japan

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Journal of Physiological Anthropology 2013, 32:16  doi:10.1186/1880-6805-32-16

Published: 12 October 2013



Our aim was to determine the association between melanopsin gene polymorphism and pupillary light reflex under diverse photic conditions, including different intensities and wavelengths.


A total of 195 visually corrected subjects volunteered for investigation of the melanopsin gene of single nucleotide polymorphism (SNP) of rs1079610 (I394T). The genotype groups were TT (n = 126), TC (n = 55), and CC (n = 8), and 75 of the subjects, including subjects with TT (n = 34), TC (n = 33), and CC (n = 8) participated in our experiment. Three monochromatic lights with peak wavelengths of 465 nm (blue), 536 nm (green), and 632 nm (red) were prepared, and each light was projected to the subjects with five intensities, 12, 13, 14, 14.5 and 15 log photons/(cm2 s), for one minute. The pupil size of the left eye was measured under each light condition after a 1-minute adaptation.


The pupils of the TC + CC genotypes (n = 38) were significantly smaller than those of the TT genotype (n = 31) under a blue (463 nm) light condition with 15 log photons/(cm2 s) (P < 0.05). In contrast, there were no significant differences under green (536 nm) and red (632 nm) light conditions. Conversely, relative pupil constrictions of the TC + CC genotypes were greater than those of the TT genotype under both blue and green conditions with high intensities (14.5 and 15 log photons/(cm2 s)). In contrast, there were no significant differences between genotype groups in pupil size and relative pupilloconstriction under the red light conditions.


Our findings suggest that the melanopsin gene polymorphism (I394T) functionally interacts with pupillary light reflex, depending on light intensity and, particularly, wavelength, and that under a light condition fulfilling both high intensity and short wavelength, the pupillary light response of subjects with the C allele (TC + CC) is more sensitive to light than that of subjects with the TT genotype.

Genotype; Human; Intrinsically photosensitive retinal ganglion cells; Melanopsin gene (OPN4); Non-image-forming responses; Pupillary light reflex; Single nucleotide polymorphism; Steady-state pupil response; Monochromatic light