Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
Authors Okui S, Meguro A, Takeuchi M, Yamane T, Okada E, Iijima Y, Mizuki N
Received 21 January 2016
Accepted for publication 17 March 2016
Published 31 October 2016 Volume 2016:10 Pages 2157—2163
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
Editor who approved publication: Dr Scott Fraser
Shintaro Okui,1 Akira Meguro,1 Masaki Takeuchi,1,2 Takahiro Yamane,1 Eiichi Okada,3 Yasuhito Iijima,4 Nobuhisa Mizuki1
1Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan; 2Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; 3Okada Eye Clinic, Yokohama, Kanagawa, Japan; 4Aoto Eye Clinic, Yokohama, Kanagawa, Japan
Purpose: Many studies have investigated the relationship of the lumican gene (LUM) rs3759223 variant with the risk of high myopia, but the results have been inconsistent and inconclusive. In this study, we investigated whether LUM rs3759223 is associated with high myopia in a Japanese population.
Methods: We recruited 1,585 Japanese patients with high myopia (spherical equivalent [SE] <–9.00 diopters [D]) and 1,011 Japanese healthy controls (SE ≥–1.00 D). The rs3759223 variant was genotyped using the TaqMan assay, and the allelic and genotypic diversity among cases and controls was analyzed according to the SE level.
Results: In the allelic tests, the odds ratio (OR) for the T allele of rs3759223 tended to increase with the progression of SE, and the highest OR (1.56) was found in patients with SE <–15 D in both eyes. The OR of the T allele tended to increase with the progression of SE in the additive, dominant, and recessive inheritance models. However, we found no significant associations for any of the alleles or genotype models.
Conclusion: These data support the possibility that the LUM rs3759223 T allele accelerates the progression of SE in the Japanese population, although no significant associations were observed in this study. Additional genetic studies with larger samples that take into account the degree of SE are needed to clarify the contribution of rs3759223 to the risk of high myopia.
Keywords: high myopia, lumican, association study, polymorphism
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