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Xiaohu Ding, Xiaobo Guo, Qiao Fan, Ching-Yu Cheng, Seang-Mei Saw, Tien Yin Wong, Mingguang He; A Systematic Genome-wide Meta-analyses for Spherical Error and Axial Length in Asian Population. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4838. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Myopia has two important endophenotypes, axial length (AL) and spherical equivalent (SE), all previous myopia related genome-wide association studies (GWASs) were analyzing AL or SE alone. We conducted a mulitvairate GWASs by jointly analyzing AL and SE for myopia in Asian cohorts from a subset of CREAM consortium.
The univariate regression modeling for the Orthogonal Decomposition Analysis (RegODA) method was used in our multivariate GWASs. We performed a multivariate meta-analysis of genome-wide association studies on AL and SE in Chinese children from the Guangzhou Twin Eye Study (GTES n=1055) and Singapore Cohort Study of the Risk Factors for Myopia (SCORM, n=915) and 6795 Asian adults from Singapore Epidemiology of Eye Disease (SEED), and Singaporean Chinese in the Strabismus, Amblyopia, and Refractive Error Study (STARS).
We identified three novel genes associated with myopia: CMPK1 derived from SNP rs60078183 (P=3.77×10-8), PARPBP derived from SNP rs11204213 (P=1.52×10-8), and ZNF488 derived from SNP rs11111226 (P=2.67×10-8). Interestingly, we found that the signals from these three novel genes were mainly origin from AL , but not significant in SE.
In this mutlvairate genome-wide meta-analyses, we found three novel genes for myopia in Asia. More studies were needed for validation of our study findings.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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