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Melanopsin Gene Polymorphism I394T Is Associated with Pupillary Light Responses in a Dose-Dependent Manner

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  • Shigekazu Higuchi
  • Akiko Hida
  • Sei-ichi Tsujimura
  • Kazuo Mishima
  • Akira Yasukouchi
  • Sang-il Lee
  • Youhei Kinjyo
  • Manabu Miyahira

Abstract

Background: 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. Methods: 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 (

Suggested Citation

  • Shigekazu Higuchi & Akiko Hida & Sei-ichi Tsujimura & Kazuo Mishima & Akira Yasukouchi & Sang-il Lee & Youhei Kinjyo & Manabu Miyahira, 2013. "Melanopsin Gene Polymorphism I394T Is Associated with Pupillary Light Responses in a Dose-Dependent Manner," PLOS ONE, Public Library of Science, vol. 8(3), pages 1-5, March.
    • Handle: RePEc:plo:pone00:0060310
    DOI: 10.1371/journal.pone.0060310
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