Identification of two gene variants for axial length in children
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AbstractPurpose
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.
All Author(s) ListLu S, Yam J, Tang S, Kam K, Young AL, Tham CC, Pang CC, Chen L
Name of ConferenceThe Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) 2019
Start Date of Conference28/04/2019
End Date of Conference02/05/2019
Place of ConferenceVancouver, British Columbia
Country/Region of ConferenceCanada
Proceedings TitleINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Year2019
Volume Number60
Issue Number9
ISSN0146-0404
LanguagesEnglish-United Kingdom

Last updated on 2021-09-04 at 00:33