The association between lumican gene polymorphisms and high myopia

Abstract

Purposes 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 and methods Patients (n ¼ 182; age range, 17-24 years) were with a myopic spherical equivalent (SE) 46.5 diopters (D) and the control group comprised individuals (n ¼ 78; age range, 17-25 years) were with a myopic SE o0.5 D. The DNA fragments were separated by horizontal electrophoresis on 3% agarose gels. The forward primer was labelled with a 5 0 FAM and the reaction products were detected using a 3100 Genetic Analyzer.Results The polymorphisms detected in this study were LUM c.601, LUM À59, LUM À628, and LUM À1554. 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 ¼ 2.08 Â 10 , OR: 4.71, 95% CI: 2.12-10.5, respectively). Conclusions 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.

Association between a Lumican Promoter Polymorphism and High Myopia in the Chinese Population: A Meta-Analysis of Case-Control Studies

“…These studies suggest lumican is a candidate functional gene for high myopia. Indeed, several genetic association studies have reported that lumican polymorphisms contribute to the pathogenesis of high myopia [2,22,23,24,25,26]. However, other studies have suggested lumican polymorphisms are not associated with high myopia [3,6,27,28].…”

“…The prevalence of myopia varies by country and ethnicity, reaching 70-90% in some Asian populations, 30-40% in Europe and North America, and 10-20% in Africa [1,2]. Simple myopia can be corrected with spectacles or contact lenses, whereas ‘high' (pathological) myopia, typically defined as a refractive error with a spherical equivalent worse than -6 dpt, often predisposes subjects to an increased developmental risk for potentially blinding conditions such as retinal detachment, macular degeneration and glaucoma [3,4].…”

Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia

“…2,3 We would like to reply to their comments as follows. Myopia is a multigenetic condition involving several overlapping signalling pathways.…”

“…They studied four SNPs in 182 highly myopic cases and 78 emmetropic controls, recruited from a sample of 3000 Taiwanese-born medical students aged 16-25 years old (Table 1a). They also published a second study addressing the same question, 2 testing five SNPsFincluding four of those aboveFin 201 high myopes and 86 emmetropic controls, also recruited from 3000 Taiwanese-born volunteers aged 16-25 years old. For the four SNPs common to both studies, the results were similar.…”

Reply to Guggenheim et al

“…2,3 We would like to reply to their comments as follows. Myopia is a multigenetic condition involving several overlapping signalling pathways.…”