title: PAX6 gene associated with high myopia: a meta-analysis.
abstract: OBJECTIVE
  The PAX6 gene is among the most studied genes in high myopia, but reported findings of association studies on PAX6 and high myopia are inconsistent. We conducted a systematic review and meta-analysis to evaluate the association of PAX6 polymorphisms and high myopia.
  
  
  METHODS
  All case-control association studies on PAX6 and high myopia reported in EMBASE and MEDLINE were retrieved. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for single-nucleotide polymorphisms (SNPs) that have been involved in at least two studies. Heterogeneity and publication bias analyses were also conducted.
  
  
  RESULTS
  There were totally 63 publications on PAX6 and myopia. Among them, six articles met all the inclusion criteria, involving 3626 patients and 3262 controls of Asian ancestry. Five PAX6 SNPs, rs3026354, rs667773, rs2071754, rs644242, and rs3026393, were meta-analyzed in high myopia and two, rs667773 and rs644242, in extreme myopia. Single-nucleotide polymorphism rs644242 was associated with high myopia in the dominant model (OR = 0.87; 95% CI, 0.76 to 0.99; p = 0.035) and heterozygous model (OR = 0.85; 95% CI, 0.74 to 0.97; p = 0.019) and with extreme myopia in the dominant model (OR = 0.79; 95% CI, 0.65 to 0.95; p = 0.015), allelic model (OR = 0.81; 95% CI, 0.68 to 0.96; p = 0.014), and heterozygous model (OR = 0.80; 95% CI, 0.65 to 0.97; p = 0.024). However, the associations cannot withstand Bonferroni correction (p > 0.005). The other four SNPs did not show significant association with high myopia.
  
  
  CONCLUSIONS
  Meta-analysis of existing data revealed a suggestive association of PAX6 rs644242 with extreme and high myopia, which awaits validation in further studies. Nevertheless, PAX6 may only confer a small effect to myopia development.
authors.affiliation: *MBBS †MMed ‡MMedSc §MPhil ∥DPhil **PhD Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China (SMT, SSR, ALY, POST, CPP, LJC); and Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China (ALY, CPP, LJC).
authors.forename: Shu Min
authors.initials: SM
authors.lastname: Tang
authors.forename: Shi Song
authors.initials: SS
authors.lastname: Rong
authors.forename: Alvin L
authors.initials: AL
authors.lastname: Young
authors.forename: Pancy O S
authors.initials: PO
authors.lastname: Tam
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
authors.forename: Li Jia
authors.initials: LJ
authors.lastname: Chen
mesh_terms: D005136:Eye Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D047728:Myopia, Degenerative / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins