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Association of the PAX6 gene with extreme myopia rather than lower grade myopias
  1. Shu Min Tang1,
  2. Li Ma1,
  3. Shi Yao Lu1,
  4. Yu Meng Wang1,
  5. Ka Wai Kam1,2,
  6. Pancy O S Tam1,
  7. Alvin L Young1,2,
  8. Chi Pui Pang1,
  9. Jason C S Yam1,
  10. Li Jia Chen1,2
  1. 1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
  2. 2Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China
  1. Correspondence to Dr Jason C S Yam and Dr Li Jia Chen, Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Hong Kong, China; yamcheuksing{at}, lijia_chen{at}


Aims To investigate the association of the paired box gene 6 (PAX6) with different severities of myopia.

Methods A total of four haplotype-tagging single-nucleotide polymorphisms (SNPs; rs2071754, rs3026354, rs3026390 and rs628224) and two previously reported SNPs (rs644242 and rs662702) in the PAX6 gene were analysed in a Hong Kong Chinese cohort of 1288 myopia subjects (including 252 extreme myopia, 277 high myopia, 393 moderate myopia and 366 mild myopia) and 791 no myopia controls. Allelic association analyses were performed for individual SNPs in different subgroups of myopia and in combined myopia, followed by a meta-analysis of our current data with reported data on PAX6 in myopia.

Results The association of tagging SNPs rs2071754 and rs644242 with extreme myopia could not withstand multiple correction (rs2071754: OR=1.25, P value=0.031; rs644242: OR=1.33, P value=0.032). In the meta-analysis, rs644242 showed an enhanced, significant association with extreme myopia (OR=1.27, 95% CI 1.10 to 1.46, P value=0.001; I2=0%). In contrast, there was no significant association between the PAX6SNPs and high, moderate or mild myopia. No linear correlation was found between the PAX6SNPs and axial length.

Conclusion This study provides additional evidence suggesting that the PAX6 SNP rs644242 is associated with extreme myopia but not lower grade myopia. Thus, PAX6 may be implicated in the development or progression into severe myopia. Further longitudinal studies are warranted.

  • genetics
  • optics and refraction

Statistics from


  • SMT and LM contributed equally.

  • JCSY and LJC contributed equally.

  • Contributors SMT and LM contributed equally. SMT did the data collection, data analysis and data interpretation. She wrote the main manuscript text and prepared the tables and figures. LM did the data collection and data analysis and data interpretation. SYL and YMW did the data collection and data analysis. KWK, POST, ALY and CPP critically revised the manuscript. JCSY and LJC conceived the study design, supervised the data collection and data analysis and critically revised the manuscript.

  • Funding This study was supported in part by the General Research Fund (GRF), Research Grants Council, Hong Kong (14111515 (JCSY)); and the Direct Grants of the Chinese University of Hong Kong (4054197 (CPP), 4054193 (LJC) and 4054121 & 4054199 (JCSY)); the UBS Optimus Foundation Grant 8984 (JCSY); and the CUHK Jockey Club Children Eye Care Programme.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval The study protocol was approved by the Ethics Committee of the Chinese University of Hong Kong.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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