AB015. The relationship between copy number variations and high myopia in Chinese: a case-control study
Theme 4: OMICS

AB015. The relationship between copy number variations and high myopia in Chinese: a case-control study

Shea Ping Yip1, Kim Hung Leung1, Patrick Y. P. Kao2, Maurice K. H. Yap2

1Department of Health Technology and Informatics, 2Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China


Abstract: As a complex disease, myopia is the most common eye disease worldwide. Many myopia susceptibility genes or variants have been successfully identified in the past years by genome-wide genetic association studies (GWAS), which focus mainly on the single-nucleotide polymorphisms. Little attention has been paid to examine the role of copy number variations (CNVs) in refractive error and myopia. This study adopted a systematic strategy to investigate the role of CNVs in high myopia. In the discovery phase, a pilot GWAS suggests putative CNVs for follow-up. Multiplex ligation-dependent probe amplification was then used to quantify the copy number of 89 CNV segments in 737 case-control samples in the second phase and then 24 top-ranking CNVs in a second group of 1,029 case-control samples in the final validation phase. This validation phase identified 22 significant CNVs. Further work is needed to examine the role of these few CNVs in myopia development.

Keywords: Myopia; copy number variations (CNVs); genetic susceptibility; case-control study; Chinese


Cite this abstract as: Yip SP, Leung KH, Kao PY, Yap MK. The relationship between copy number variations and high myopia in Chinese: a case-control study. Ann Eye Sci 2017;2:AB015. doi: 10.21037/aes.2017.AB015

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