Absence of an association between lumican promoter variants and high myopia in the Korean population

Abstract

Purpose: To determine the association of single nucleotide polymorphisms (SNPs) in the promoter region of the lumican (LUM) gene with high myopic Korean patients.

Methods: Genomic DNA samples were obtained from 128 unrelated Korean patients with high myopia who had refractive errors ≤ −9.25 and axial lengths ≥ 26.5 mm in both eyes, and 235 control subjects. We investigated two promoter SNPs of the LUM gene.

Results: For the rs3759222, the C/C genotype was less prevalent in the high myopia group compared to the control group (46.1% vs. 53.2%); however, there was no statistical significance (p = 0.068, OR = 0.754, 95% CI: 0.491–1.159). The “C” allele frequency in the high myopia group (68.0%) was slightly lower than the control group (72.6%), but this difference was not statistically significant (p = 0.061, OR = 0.810, 95% CI:0.582–1.126). For the rs3759223, the genotype frequencies of T/T, T/C, and C/C were 67.2%, 26.6%, and 6.2%, respectively, in the high myopia group and 64.7%, 30.6%, and 4.7 %, respectively, in the control group. The allele frequency of T was 80.5% in the high myopia group and 80.0% in the control group (p = 0.077, OR = 1.03, 95% CI: 0.703–1.508). There were no significant differences in the distribution of genotype and allele frequencies for the two promoter SNPs tested.

Conclusions: The current study did not support an association between the promoter SNPs of the LUM gene with high myopia in the Korean population.

KEYWORDS::

• High myopia
• Korean
• Lumican
• Single-nucleotide polymorphism

ACKNOWLEDGMENTS

The authors thank the Korea Eye Tissue and Gene Bank, the Catholic University of Korea, and the staff of the Department of Ophthalmology and Visual Science at Seoul St. Mary’s Hospital.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.