Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia.
Genetic variation in the regulatory domains of the lumican gene, where both rs3759223 and rs3741834 are located, are associated with high myopia susceptibility among the Han Chinese, making this region worthy of further investigation.