Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population

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 Geno...

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Autores principales:	Okui S, Meguro A, Takeuchi M, Yamane T, Okada E, Iijima Y, Mizuki N
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	high myopia lumican association study polymorphism Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/b8d5d48dd76e401fa273bade33692645
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spelling	oai:doaj.org-article:b8d5d48dd76e401fa273bade336926452021-12-02T00:42:02ZAnalysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population1177-5483https://doaj.org/article/b8d5d48dd76e401fa273bade336926452016-10-01T00:00:00Zhttps://www.dovepress.com/analysis-of-the-association-between-the-lum-rs3759223-variant-and-high-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Shintaro 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, polymorphismOkui SMeguro ATakeuchi MYamane TOkada EIijima YMizuki NDove Medical Pressarticlehigh myopialumicanassociation studypolymorphismOphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 10, Pp 2157-2163 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	high myopia lumican association study polymorphism Ophthalmology RE1-994
spellingShingle	high myopia lumican association study polymorphism Ophthalmology RE1-994 Okui S Meguro A Takeuchi M Yamane T Okada E Iijima Y Mizuki N Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
description	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
format	article
author	Okui S Meguro A Takeuchi M Yamane T Okada E Iijima Y Mizuki N
author_facet	Okui S Meguro A Takeuchi M Yamane T Okada E Iijima Y Mizuki N
author_sort	Okui S
title	Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
title_short	Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
title_full	Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
title_fullStr	Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
title_full_unstemmed	Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population
title_sort	analysis of the association between the lum rs3759223 variant and high myopia in a japanese population
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/b8d5d48dd76e401fa273bade33692645
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Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population

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