Genotype–phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population

What is it about?

Myopia is the most prevalent ocular disorder in the world, with a particularly high prevalence of 80 to 90% in East Asia. Identification of myopia genes can help to discover the mechanisms and pathways for myopia development. In this study, we aimed to determine the association of the GWAS-reported variants for Asian populations with myopia in southern Chinese population. We revealed significant association of 4q25, 15q14 and MIPEP variants with myopia and different severity of myopia in southern Chinese population, joint additively enhancing 10-fold of risk predisposing to high myopia. The correlation of these associated variants with axial length and corneal parameters suggest their contribution to the refractive status in high myopia subjects.

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