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Association of the ZC3H11B, ZFHX1B and SNTB1 genes with myopia of different severities
  1. Shu Min Tang1,2,3,
  2. Fen Fen Li1,
  3. Shi Yao Lu1,
  4. Ka Wai Kam1,2,
  5. Pancy O S Tam1,
  6. Clement C Tham1,
  7. Chi Pui Pang1,
  8. Jason C S Yam1,
  9. Li Jia Chen1,2
  1. 1 Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, New Territories, Hong Kong
  2. 2 Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, New Territories, Hong Kong
  3. 3 Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China
  1. Correspondence to Dr Li Jia Chen, Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong; lijia_chen{at}


Objective To investigate the associations of single-nucleotide polymorphisms (SNPs) in the ZC3H11B, ZFHX1B, VIPR2, SNTB1 and MIPEP genes with severities of myopia in Chinese populations.

Methods Based on previous myopia genome-wide association studies, five SNPs (ZC3H11B rs4373767, ZFHX1B rs13382811, VIPR2 rs2730260, SNTB1 rs7839488 and MIPEP rs9318086) were selected for genotyping in a Chinese cohort of 2079 subjects: 252 extreme myopia, 277 high myopia, 393 moderate myopia, 366 mild myopia and 791 non-myopic controls. Genotyping was performed by TaqMan assays. Allelic frequencies of the SNPs were compared with myopia severities and ophthalmic biometric measurements.

Results The risk allele T of ZC3H11B SNP rs4373767 was significantly associated with high myopia (OR=1.39, p=0.007) and extreme myopia (OR=1.34, p=0.013) when compared with controls, whereas ZFHX1B rs13382811 (allele T, OR=1.33, p=0.018) and SNTB1 rs7839488 (allele G, OR=1.71, p=8.44E-05) were significantly associated with extreme myopia only. In contrast, there was no significant association of these SNPs with moderate or mild myopia. When compared with mild myopia, subjects carrying T allele of rs4373767 had a risk of progressing to high myopia (spherical equivalent ≤−6 dioptres) (OR=1.29, p=0.017). Similarly, the T allele of rs13382811 also imposed a significant risk to high myopia (OR=1.36, p=0.007). In quantitative traits analysis, SNPs rs4373767, rs13382811 and rs7839488 were correlated with axial length and refractive errors.

Conclusions We confirmed ZC3H11B as a susceptibility gene for high and extreme myopia, and ZFHX1B and SNTB for extreme myopia in Chinese populations. Instead of myopia onset, these three genes were more likely to impose risks of progressing to high and extreme myopia.

  • genetics
  • optics and refraction

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  • SMT and FFL contributed equally.

  • Contributors LC, JCSY and CP-P conceived the idea and designed the study. LC, JCSY and KWK recruited the study subjects and performed clinical examinations. ST, FFL, SY Lu and POST performed the experiments. FFL and ST analysed the data and wrote the manuscript. LC, JCSY, CP-P and CCT revised the paper. All authors approved the submitted version.

  • Funding The work in this paper was supported in part by the research grants from the General Research Fund, Hong Kong (14111515 (J.C.S.Y)); the Health and Medical Research Fund Hong Kong (05160836 (C.L.J.)) and the Endowment Fund for Lim Por-Yen Eye Genetics Research Centre, Hong Kong.

  • Disclaimer We express our gratitude to all participants in this study.

  • Competing interests None declared.

  • Patient consent for publication Not required.

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

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.