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

Authors: Choun-Ki Joo; Jeewon Mok; Shin Hae Park;

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

Abstract

To determine the association of single nucleotide polymorphisms (SNPs) in the promoter region of the lumican (LUM) gene with high myopic Korean patients.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.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.The current study did not support an association between the promoter SNPs of the LUM gene with high myopia in the Korean population.

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Keywords

Adult, Male, Lumican, Korea, Genotype, Visual Acuity, Sequence Analysis, DNA, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Asian People, Chondroitin Sulfate Proteoglycans, Gene Frequency, Keratan Sulfate, Myopia, Degenerative, Humans, Female, Promoter Regions, Genetic, Genetic Association Studies, Polymorphism, Restriction Fragment Length, DNA Primers

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
15
Average
Average
Top 10%