New loci for refractive errors and ocular biometric parameters in young Chinese Han adults

Myopia has become a major public health issue with an increasing prevalence. There are still individuals who experience similar environmental risk factors and, yet, remain non-myopic. Thus, there might be genetic factors protecting people from myopia. Considering the opposite ocular characteristics of primary angle closure glaucoma (PACG) to myopia and possible common pathway between them, we propose that certain risk genes for PACG might act as a protective factor for myopia. In this study, 2,678 young adults were genotyped for 37 targeted single nucleotide polymorphisms. Compared with emmetropia, rs1401999 (allele C: OR=0.795, P=0.03; genotype in dominant model: OR=0.759, P=0.02) and rs1258267 (allele A: OR=0.824, P=0.03; genotype in dominant model: OR=0.603, P=0.01) were associated with low to moderate myopia and high myopia, respectively. Genotype under recessive model of rs11024102 was correlated with myopia (OR=1.456, P=0.01), low to moderate myopia (OR=1.443, P=0.02) and high myopia (OR=1.453, P=0.02). However, these associations did not survive Bonferroni correction. Moreover, rs1401999, rs1258267, and rs11024102 showed associations with certain ocular biometric parameters in different groups. Our study suggests that ABCC5, CHAT and PLEKHA7 might be associated with refractive errors by contributing to the regulation of ocular biometry, in terms of uncorrected results and their biological functions.

Automated summary

Myopia has become a major public health issue with increasing prevalence. Genetic factors might be protecting people from myopia, and certain risk genes for primary angle closure glaucoma (PACG) could act as a protective factor for myopia.