The association between lumican gene polymorphisms and high myopia

Abstract

Lumican (LUM) is one of the major extracellular matrix components of the sclera. Increasing evidence suggests that changes in the structure and composition of the sclera are major factors in regulating scleral integrity and axial elongation of the eye, as in myopia. Patients (n=182; age range, 17-24 years) were with a myopic spherical equivalent (SE)>6.5 diopters (D) and the control group comprised individuals (n=78; age range, 17-25 years) were with a myopic SE<0.5 D. The DNA fragments were separated by horizontal electrophoresis on 3% agarose gels. The forward primer was labelled with a 5' FAM and the reaction products were detected using a 3100 Genetic Analyzer. The polymorphisms detected in this study were LUMc.601, LUM-59, LUM-628, and LUM-1554. Moreover, the haplotype distributions of Ht1 (C/A/CC/T), Ht2 (C/A/--/T), Ht3 (T/A/CC/C), Ht4 (T/--/CC/T), Ht5 (T/--/CC/C), and Ht6 (T/--/--/C) of these polymorphisms were compared between the two groups. The haplotype frequencies of Ht1, Ht2, Ht5, and Ht6 differed significantly between the two groups (P=2.08x10(-5), odds ratio (OR): 2.19, 95% confidence interval (CI): 1.52-3.15; P=2.2x10(-5), OR: 0.39, 95% CI: 0.25-0.61; P=2.7x10(-5), OR: 0.36, 95% CI: 0.22-0.59; P=3.7x10(-5), OR: 4.71, 95% CI: 2.12-10.5, respectively). These observations suggest that the four polymorphisms of the LUM promoter contribute to the pathogenesis of high myopia. Understanding the functions of LUM in myopia helps us design new methods in treating and preventing myopia.