April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Effect sizes of myopia-related genes on ocular biometry in childhood and later in life
Author Affiliations & Notes
  • Willem Tideman
    Ophthalmology, ErasmusMC, Rotterdam, Netherlands
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
  • Jan Roelof Polling
    Ophthalmology, ErasmusMC, Rotterdam, Netherlands
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
  • Vincent W Jaddoe
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
    Pediatrics, ErasmusMC, Rotterdam, Netherlands
  • Albert Hofman
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
  • Johannes R Vingerling
    Ophthalmology, ErasmusMC, Rotterdam, Netherlands
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
  • Virginie JM Verhoeven
    Ophthalmology, ErasmusMC, Rotterdam, Netherlands
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
  • Caroline C W Klaver
    Ophthalmology, ErasmusMC, Rotterdam, Netherlands
    Epidemiology, ErasmusMC, Rotterdam, Netherlands
  • Footnotes
    Commercial Relationships Willem Tideman, None; Jan Roelof Polling, None; Vincent Jaddoe, None; Albert Hofman, None; Johannes Vingerling, None; Virginie Verhoeven, None; Caroline Klaver, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 841. doi:
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      Willem Tideman, Jan Roelof Polling, Vincent W Jaddoe, Albert Hofman, Johannes R Vingerling, Virginie JM Verhoeven, Caroline C W Klaver, ; Effect sizes of myopia-related genes on ocular biometry in childhood and later in life. Invest. Ophthalmol. Vis. Sci. 2014;55(13):841.

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

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Abstract
 
Purpose
 

Common genetic variants have recently been associated with myopia and axial length. CREAM and 23andMe identified 42 genes associated with refractive error, axial length, and/or myopia using genome-wide association studies. The age of onset is currently unknown for these genes. We aimed to compare the effect of the individual risk variants on ocular biometry in young children versus adults.

 
Methods
 

In this study, we evaluated the effect sizes of the 42 genes on axial length (AL) and corneal curvature (CC) in the Generation R birth cohort (mean age 6 (±0.5 yrs), and in the population-based Rotterdam Studies(RSI-III; 45+ years). In the Generation R cohort, data were available on AL (N=3880) and corneal curvature (N=3795). In RSI-III, data were available on SE (N=10,774), AL (N=2,471) and CC (N=10,753). Linear regression was performed using each SNP as a determinant and AL and CC as outcomes, adjusting for age, sex and height. We compared effect sizes (betas) between the two study populations.

 
Results
 

For AL, seven of the previously identified genes (LAMA2, GJD2, C3orf26, ZC3H11B, CACNA1D, BMP4 and RSPO1) were significant in both study cohorts (P<0.05). The effect sizes of these seven genes were larger in adults (Figure 1). Four genes (KCNQ5, SHISA6, DLX1, DLG2) were only significant in Generation R (P<0.05). For CC, three genes (RSPO1, BMP4 and BICC1) were significantly associated in both study populations (figure 2). Effect size for RSPO1 increases, for BMP4 decreases and for BICC1 reverses.

 
Conclusions
 

Some genes associated with refractive error in adults already have a significant effect on ocular biometry in young children. The genes SHISA6 and, DLG2 appear to have all their effect on AL early in life. Most genes (LAMA2, GJD2) have an early effect which progresses with age, and some genes (CD55, CHRNG) have no effect at all yet at 6 years. Our results provide insights on the age period in which myopia genes exert their effect.

 
 
Figure1: relation of effect size in AL (mm) between myopia genes in Generation R and RSI-III
 
Figure1: relation of effect size in AL (mm) between myopia genes in Generation R and RSI-III
 
 
Figure2: relation of effect sizes in CC between myopia genes in Generation R and RSI-III
 
Figure2: relation of effect sizes in CC between myopia genes in Generation R and RSI-III
 
Keywords: 605 myopia • 533 gene/expression • 497 development  
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