title: Association of paired box 6 with high myopia in Japanese.
abstract: OBJECTIVE
  The objective of this study was to investigate whether genetic variations in the paired box 6 (PAX6) gene are associated with high myopia in Japanese subjects.
  
  
  METHODS
  A total of 1,307 unrelated Japanese patients with high myopia (axial length ≥26 mm in both eyes) and two independent control groups were evaluated (333 cataract patients without high myopia and 923 age-matched healthy Japanese individuals). We genotyped three tag single-nucleotide polymorphisms (SNPs) in PAX6: rs2071754, rs644242, and rs3026354. These SNPs provided 100% coverage of all phase II HapMap SNPs within the PAX6 region (minor allele frequency ≥0.10; r(2) threshold: 0.90). Chi-square tests for trend and multivariable logistic regression were conducted.
  
  
  RESULTS
  Genotype distributions in the three SNPs were in accordance with the Hardy-Weinberg equilibrium. After adjusting for age and sex, evaluation of cataract control showed a marginal association with high myopia in rs644242 (odds ratio [95% confidence interval]=0.69 [0.49-0.96], p=0.026), and a significant association was observed in healthy Japanese controls (0.79 [0.66-0.96], p=0.015). We pooled two control cohorts to evaluate the association. This analysis revealed a strong association between rs644242 and high myopia (0.78 [0.65-0.92], p=0.0045). The rs644242 A allele was a protective allele for development of high myopia. Subanalysis also revealed that rs644242 was significantly associated with extreme high myopia (0.78 [0.64-0.95], p=0.0165). The other two SNPs did not show a significant association with this condition.
  
  
  CONCLUSIONS
  The current study showed a significant association of PAX6 with high and extreme myopia in Japanese participants. The A allele of rs644242 is a protective allele.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Miyake
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamashiro
authors.forename: Hideo
authors.initials: H
authors.lastname: Nakanishi
authors.forename: Isao
authors.initials: I
authors.lastname: Nakata
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Akagi-Kurashige
authors.forename: Akitaka
authors.initials: A
authors.lastname: Tsujikawa
authors.forename: Muka
authors.initials: M
authors.lastname: Moriyama
authors.forename: Kyoko
authors.initials: K
authors.lastname: Ohno-Matsui
authors.forename: Manabu
authors.initials: M
authors.lastname: Mochizuki
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamada
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Matsuda
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins