July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
Identification of two gene variants for axial length in children
Author Affiliations & Notes
  • Shiyao Lu
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
  • Jason YAM
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
  • Shu Min Tang
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
  • Ka Wai Kam
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
    Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong
  • Alvin L Young
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
    Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong
  • Clement C Y Tham
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
    Hong Kong Eye Hospital, Hong Kong
  • Calvin C P Pang
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
    Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, China
  • Li Jia Chen
    Department of Ophthalmology and Visual Sciences, the Chinese of Hong Kong, Hong Kong, Hong Kong
    Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong
  • Footnotes
    Commercial Relationships   Shiyao Lu, None; Jason YAM, None; Shu Min Tang, None; Ka Wai Kam, None; Alvin Young, None; Clement Tham, None; Calvin Pang, None; Li Jia Chen, None
  • Footnotes
    Support  Health and Medical Research Fund Hong Kong (05160836 (C.L.J.))
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 3149. doi:
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    • Get Citation

      Shiyao Lu, Jason YAM, Shu Min Tang, Ka Wai Kam, Alvin L Young, Clement C Y Tham, Calvin C P Pang, Li Jia Chen; Identification of two gene variants for axial length in children. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3149.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To identify genetic variations associated with axial length (AL), an endophenotype of myopia, in children.

Methods : Totally 2,875 children aged between 6 and 9 years were recruited from the Hong Kong Children Eye Study. Genomic DNA was extracted from buccal swab samples. Six single-nucleotide polymorphism (SNPs) that were identified in previous genome-wide association studies (GWAS) of AL in adults were genotyped in 1,062 children (Stage 1). SNPs showing association with AL were further tested in another 1,813 children (Stage 2). Linear regression was utilized to fit an additive model for AL, adjusted for age, gender and height. Associations of the SNPs with refractive error (RE) were also evaluated by fitting a linear regression model for mean spherical equivalent, adjusted for age and gender.

Results : In stage 1, SNPs rs10453441 and rs12144790, but not rs9811920, rs11073058, rs12321, rs4373767, were associated with AL (P= 0.024 and 0.043, respectively). In Stage 2, the association of rs10453441 (β=0.12, P=1.1x10-5) and rs12144790 (β=0.058, P=0.037) with AL were replicated, both achieving an enhanced, significant association in the pooled cohort (β=0.108, P=2.7x10-6; β=0.069, P=0.0023, respectively). None of the tested SNPs was associated with RE.

Conclusions : Only SNPs rs10453441 and rs12144790 out of 6 SNPs associated with AL in adults were significantly associated with AL in children, with comparable effect sizes to that in adults. Our data suggests that the genetic profiles of AL could be different between children and adults. Different gene variants may exert their effects on AL differently in childhood as compared to adulthood.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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