Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.

<h4>Background</h4>Melanopsin-containing intrinsically photosensitive retinal ganglion cells (ipRGCs) play an important role in non-image forming responses to light, such as circadian photoentrainment, light-induced melatonin suppression, and pupillary light response. Although it is know...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Shigekazu Higuchi, Akiko Hida, Sei-ichi Tsujimura, Kazuo Mishima, Akira Yasukouchi, Sang-il Lee, Youhei Kinjyo, Manabu Miyahira
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/e99b1d538a7a4999b91be4853aff240c
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:e99b1d538a7a4999b91be4853aff240c
record_format	dspace
spelling	oai:doaj.org-article:e99b1d538a7a4999b91be4853aff240c2021-11-18T07:51:29ZMelanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.1932-620310.1371/journal.pone.0060310https://doaj.org/article/e99b1d538a7a4999b91be4853aff240c2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23555953/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Melanopsin-containing intrinsically photosensitive retinal ganglion cells (ipRGCs) play an important role in non-image forming responses to light, such as circadian photoentrainment, light-induced melatonin suppression, and pupillary light response. Although it is known that there are some single nucleotide polymorphisms (SNPs) in the melanopsin (OPN4) gene in humans, the associations of the SNPs with non-image forming responses to light remains unclear. In the present study, we examined the associations of melanopsin gene polymorphisms with pupillary light response.<h4>Methods</h4>Japanese university students (mean age: 21.0 ± 1.7 years) with the genotypes of TT (n = 38), TC (n = 28) and CC (n = 7) at rs1079610 (I394T) located in the coding region participated in the present study. They were matched by age and sex ratio. Dark-adapted pupil size (<1 lx) was first measured. Then steady-state pupil size was measured during exposure to five lighting conditions (10 lx, 100 lx, 1000 lx, 3000 lx, 6000 lx in the vertical direction at eye level).<h4>Results</h4>Significant interaction between the genotype of I394T (TT versus TC+CC) and luminance levels was found in pupil size. Under high illuminance levels (1000 lx, 3000 lx and 6000 lx), pupil sizes in subjects with the C allele were significantly smaller than those in subjects with the TT genotype. On the other hand, pupil size in subjects with the C allele under low illuminance (<1 lx) was significantly larger than that in subjects with the TT genotype. Percentages of pupil constriction under high illuminance levels were significantly greater in subjects with the C allele than in subjects with the TT genotype.<h4>Conclusions</h4>Human melanopsin gene polymorphism I394T interacted with irradiance in association with pupil size. This is the first evidence suggesting a functional connection between melanopsin gene polymorphism and pupillary light response as an index of non-image forming response to light.Shigekazu HiguchiAkiko HidaSei-ichi TsujimuraKazuo MishimaAkira YasukouchiSang-il LeeYouhei KinjyoManabu MiyahiraPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 3, p e60310 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Shigekazu Higuchi Akiko Hida Sei-ichi Tsujimura Kazuo Mishima Akira Yasukouchi Sang-il Lee Youhei Kinjyo Manabu Miyahira Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.
description	<h4>Background</h4>Melanopsin-containing intrinsically photosensitive retinal ganglion cells (ipRGCs) play an important role in non-image forming responses to light, such as circadian photoentrainment, light-induced melatonin suppression, and pupillary light response. Although it is known that there are some single nucleotide polymorphisms (SNPs) in the melanopsin (OPN4) gene in humans, the associations of the SNPs with non-image forming responses to light remains unclear. In the present study, we examined the associations of melanopsin gene polymorphisms with pupillary light response.<h4>Methods</h4>Japanese university students (mean age: 21.0 ± 1.7 years) with the genotypes of TT (n = 38), TC (n = 28) and CC (n = 7) at rs1079610 (I394T) located in the coding region participated in the present study. They were matched by age and sex ratio. Dark-adapted pupil size (<1 lx) was first measured. Then steady-state pupil size was measured during exposure to five lighting conditions (10 lx, 100 lx, 1000 lx, 3000 lx, 6000 lx in the vertical direction at eye level).<h4>Results</h4>Significant interaction between the genotype of I394T (TT versus TC+CC) and luminance levels was found in pupil size. Under high illuminance levels (1000 lx, 3000 lx and 6000 lx), pupil sizes in subjects with the C allele were significantly smaller than those in subjects with the TT genotype. On the other hand, pupil size in subjects with the C allele under low illuminance (<1 lx) was significantly larger than that in subjects with the TT genotype. Percentages of pupil constriction under high illuminance levels were significantly greater in subjects with the C allele than in subjects with the TT genotype.<h4>Conclusions</h4>Human melanopsin gene polymorphism I394T interacted with irradiance in association with pupil size. This is the first evidence suggesting a functional connection between melanopsin gene polymorphism and pupillary light response as an index of non-image forming response to light.
format	article
author	Shigekazu Higuchi Akiko Hida Sei-ichi Tsujimura Kazuo Mishima Akira Yasukouchi Sang-il Lee Youhei Kinjyo Manabu Miyahira
author_facet	Shigekazu Higuchi Akiko Hida Sei-ichi Tsujimura Kazuo Mishima Akira Yasukouchi Sang-il Lee Youhei Kinjyo Manabu Miyahira
author_sort	Shigekazu Higuchi
title	Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.
title_short	Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.
title_full	Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.
title_fullStr	Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.
title_full_unstemmed	Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.
title_sort	melanopsin gene polymorphism i394t is associated with pupillary light responses in a dose-dependent manner.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/e99b1d538a7a4999b91be4853aff240c
work_keys_str_mv	AT shigekazuhiguchi melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT akikohida melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT seiichitsujimura melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT kazuomishima melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT akirayasukouchi melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT sangillee melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT youheikinjyo melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner AT manabumiyahira melanopsingenepolymorphismi394tisassociatedwithpupillarylightresponsesinadosedependentmanner
_version_	1718422884590813184

Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent manner.

Ejemplares similares