A novel genetic variant of BMP2K contributes to high myopia

Abstract

Loss of eye growth regulation may cause myopia, because modulation of optic globe size is essential for the generation of normal optic power. Evidence has implied variations of BMP2 gene expression mediate ocular development and retinal tissue remodeling. Given BMP2 as a potential regulator involved in myopia development, we investigate whether gene BMP2-inducible kinase (BMP2K, BIKe), whose expression is up-regulated during BMP2-induced osteoblast differentiation, contributes to susceptibility of high myopia. Participants grouped into high myopia had a spherical equivalent greater than -6.00 D, compared with a control group of spherical equivalent less than -0.5 D. Genotyping of polymorphisms 1379 G/A (rs2288255) and 3171 C/G (rs12507099), corresponding with 405 Gly/Ser and 1002 Thr/Ser variation in the BMP2K gene were determined by PCR-restriction fragment length polymorphism and associative study performed by comparing high myopic subjects and healthy controls. The frequency of A allele in the BMP2K gene 1379 G/A polymorphism showed a significant difference between cases and controls (P<0.001, OR=2.99, 95% CI=1.62-5.54) and subjects with either AA or AG genotype show higher risk than GG genotype (P<0.001, OR=3.07, 95% CI=1.59-5.92), while 3171 C/G polymorphism was not significant from this survey. These data suggest that BMP2K gene 1379 G/A variant is strongly correlated with high myopia and may contribute to a genetic risk factor for high degrees of myopic pathogenesis.