title: Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population.
abstract: OBJECTIVE
  Many studies have investigated the relationship of paired box 6 (PAX6) gene polymorphisms with the risk of high myopia, but the results across studies remain inconsistent and ambiguous. In the present work, we investigated whether PAX6 polymorphisms are associated with high myopia in a Japanese population.
  
  
  METHODS
  A total of 1,585 Japanese patients with high myopia (spherical equivalent [SE] <-9.00 diopters [D]) and 1,011 Japanese healthy controls (SE≥-1.00 D) were recruited. To compare genotype frequencies between cases and controls, we genotyped five single nucleotide polymorphisms in the PAX6 gene that are reportedly associated with high/extreme myopia: rs662702, rs3026393, rs644242, rs3026390, and rs667773.
  
  
  RESULTS
  For rs662702, rs644242, and rs667773, odds ratios (ORs) for their risk alleles tended to increase with the progression of SE and axial length in the additive and recessive models. Of these, rs644242 had the highest OR (2.56) in patients with SE<-15 D in both eyes in the recessive model. On the other hand, for rs3026393 and rs3026390, the ORs for their risk alleles tended to increase according to the progression of SE and axial length in the dominant model. Of the two, rs3026393 had the highest OR (2.32) in patients with SE<-15 D in both eyes in the dominant model. However, no significant associations were identified in this study.
  
  
  CONCLUSIONS
  We found that these PAX6 single nucleotide polymorphisms were associated with an increased risk of extreme myopia. Although the results, which are in agreement with some previous studies, did not reach statistical significance, PAX6 single nucleotide polymorphisms may be important risk factors for the development of extreme myopia. Further genetic studies with larger sample sizes and taking into account the degree of myopia are needed to clarify the contribution of PAX6 variants in myopia development.
authors.affiliation: Veterinary Teaching Hospital, Azabu University, Sagamihara, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Kanemaki
authors.affiliation: Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Meguro
authors.affiliation: Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamane
authors.affiliation: Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan ; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takeuchi
authors.affiliation: Okada Eye Clinic, Yokohama, Kanagawa, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Okada
authors.affiliation: Aoto Eye Clinic, Yokohama, Kanagawa, Japan.
authors.forename: Yasuhito
authors.initials: Y
authors.lastname: Iijima
authors.affiliation: Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Nobuhisa
authors.initials: N
authors.lastname: Mizuki
keywords: PAX6; association study; high myopia; polymorphism