Abstract
Purpose :
To identify novel susceptibility loci for children refraction using genome-wide association study (GWAS) followed by replication.
Methods :
This study included a total of 5330 Children subjects from Hong Kong and Shantou, China. All children have undergone detailed refraction and investigation. We performed a meta-GWAS on spherical equivalent (SE) in 1237 Hong Kong children, followed by replication analysis in a total of 4093 additional samples from Hong Kong and Shantou. Data sets from different phases and samples were meta-analyzed.
Results :
We identified 4 single-nucleotide polymorphisms (SNPs) from 4 genes achieving genome-wide significance (P < 5.0×10-8). One locus was previously reported as a myopia related locus (TENM3) in adults, whilst the other 3 were novel (MIR4275, CXCL8, FAM135B). Functional analysis in silico showed the above genes are highly expressed in the posterior segment and located at exon area of non-coding transcript or non-coding area of protein-coding genes.
Conclusions :
Our study identified 4 novel loci associated with children refraction and demonstrated an important role of epigenetics and transcriptional regulation in myopia. By connecting previous findings in adult refraction, our children GWAS identified novel genetic loci for children refraction, which laid the foundation for the prediction of myopia development by genetic markers early in life.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.