Association between Ocular Axial Length-Related Genes and High Myopia in a Han Chinese Population

Ophthalmologica. 2016;235(1):57-60. doi: 10.1159/000439446. Epub 2015 Oct 21.


Aims: A previous genome-wide association study of high myopia identified five genome-wide loci for ocular axial length (C3orf26, ZC3H11B, RSPO1, GJD2, and ZNRF3). The aim of our study was to investigate the association between high myopia and genetic variants in the five loci in Han Chinese subjects.

Methods: Five single nucleotide polymorphisms were genotyped in 296 unrelated high-myopia subjects and 300 matched emmetropic controls by the SNaPshot method. The distribution of genotypes in the cases and controls was compared in codominant, dominant, and recessive genetic models by using SNPStats online software.

Results: Significant associations between rs994767 near ZC3H11B (p = 0.001), rs4074961 in RSPO1 (p < 0.001), and rs11073058 in GJD2 (p = 0.029) and high myopia were observed. Odds ratios (95% confidence intervals) were 1.532 (1.200-1.955), 1.603 (1.267-2.029), and 1.290 (1.027-1.621) for the rs994767 T allele, rs4074961 T allele, and rs11073058 T allele, respectively. But rs9811920 in C3orf26 and rs12321 in ZNRF3 were not associated with high myopia.

Conclusion: Our findings suggested that genetic variants in ZC3H11B, RSPO1, and GJD2 are associated with susceptibility to the development of high myopia in a Han Chinese population. Functional roles of ZC3H11B, RSPO1, and GJD2 in the pathology of high myopia need to be further investigated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • Axial Length, Eye / physiology*
  • Connexins / genetics*
  • DNA-Binding Proteins / genetics*
  • Genetic Predisposition to Disease
  • Genotyping Techniques
  • Humans
  • Myopia, Degenerative / diagnosis
  • Myopia, Degenerative / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Thrombospondins / genetics*


  • Connexins
  • DNA-Binding Proteins
  • RSPO1 protein, human
  • TUT4 protein, human
  • Thrombospondins
  • connexin 36