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Genotype–phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population
  1. Junbin Liu1,
  2. Riping Zhang1,
  3. Lixia Sun1,
  4. Yuqian Zheng1,
  5. Shaowan Chen1,
  6. Shao-Lang Chen1,
  7. Yanxuan Xu1,
  8. Chi-Pui Pang1,2,
  9. Mingzhi Zhang1,
  10. Tsz Kin Ng1,2,3
  1. 1Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China
  2. 2Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
  3. 3Shantou University Medical College, Shantou, Guangdong, China
  1. Correspondence to Professor Tsz Kin Ng, Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China; micntk{at}hotmail.com; Dr Mingzhi Zhang, Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China; zmz{at}jsiec.org

Abstract

Background/aims To determine the association and interaction of genome-wide association study-reported variants for Asian populations with myopia and ocular biometric parameters in southern Chinese population.

Methods Totally, 1462 unrelated Han Chinese subjects were recruited with complete ophthalmic examinations, including 1196 myopia and 266 control subjects. A total of nine variants were selected for TaqMan genotyping. The genetic association, joint additive effect and genotype–phenotype correlation were investigated.

Results The 4q25 variant rs10034228 (p=0.002, OR=0.56) and MIPEP variant rs9318086 (p=0.004, OR=1.62) were found to be significantly associated with myopia as well as different severity of myopia. Moreover, 15q14 variant rs524952 (p=0.015, OR=1.49) also showed mild association with myopia and high myopia. However, there was no significant association of CTNND2, vasoactive intestinal peptide receptor 2 and syntrophin beta 1 variants with myopia. Joint additive analysis revealed that the subjects carrying 6 risk alleles of the 3 associated variants were 10-fold higher risk predisposed to high myopia. Genotype–phenotype correlation analysis revealed that high myopia subjects carrying 4q25 rs10034228 T allele showed thicker central corneal thickness, whereas high myopia subjects carrying 15q14 rs524952 A allele were associated with longer axial length and larger curvature ratio.

Conclusion This study revealed significant association of 4q25, 15q14 and MIPEP variants with myopia and different severity of myopia in southern Chinese population, joint additively enhancing 10-fold of risk predisposing to high myopia. The correlation of these associated variants with axial length and corneal parameters suggests their contribution to the refractive status in high myopia subjects.

  • genetics
  • optics and refraction
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Footnotes

  • MZ and TKN are joint senior authors.

  • JL and RZ are joint first authors.

  • Contributors TKN: conception and design; financial support. RZ, LS and MZ: provision of study materials. YZ, SC, S-LC, YX and JL: collection and/or assembly of data. JL and TKN: data analysis and interpretation; manuscript writing. C-PP, MZ and TKN: final approval of manuscript.

  • Funding This work was supported by the Shantou Medical Health, Science and Technology Project Fund (project code: 180712154010577 to TKN), China

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval The study protocol was approved by the Ethics Committee for Human Research at the Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, which is in accordance with the tenets of the Declaration of Helsinki.

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

  • Data availability statement Data are available upon request.

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