Associations between CRYBA4 gene variants and high myopia in a Japanese population

Tatsukata Kawagoe,1 Masao Ota,1,2 Akira Meguro,1 Masaki Takeuchi,1 Takahiro Yamane,1 Haruna Shimazaki,3 Masaru Takeuchi,3 Eiichi Okada,4 Takeshi Teshigawara,1,5,6 Nobuhisa Mizuki1 1Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, 2Depar...

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Autores principales: Kawagoe T, Ota M, Meguro A, Takeuchi M, Yamane T, Shimazaki H, Okada E, Teshigawara T, Mizuki N
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Publicado: Dove Medical Press 2017
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spelling oai:doaj.org-article:d7b430249c4d435685fccee5324f47fb2021-12-02T07:38:56ZAssociations between CRYBA4 gene variants and high myopia in a Japanese population1177-5483https://doaj.org/article/d7b430249c4d435685fccee5324f47fb2017-12-01T00:00:00Zhttps://www.dovepress.com/associations-between-cryba4-gene-variants-and-high-myopia-in-a-japanes-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Tatsukata Kawagoe,1 Masao Ota,1,2 Akira Meguro,1 Masaki Takeuchi,1 Takahiro Yamane,1 Haruna Shimazaki,3 Masaru Takeuchi,3 Eiichi Okada,4 Takeshi Teshigawara,1,5,6 Nobuhisa Mizuki1 1Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, 2Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, 3Department of Ophthalmology, National Defense Medical College, Tokorozawa, 4Okada Eye Clinic, Yokohama, 5Yokosuka Chuoh Eye Clinic, Yokosuka, 6Tsurumi Chuoh Eye Clinic, Yokohama, Japan Purpose: The crystallin beta A4 (CRYBA4) gene variant, rs2009066, was previously reported to be associated with high myopia in a southern Chinese population. In the present study, we investigated whether CRYBA4 variants were associated with high myopia in a Japanese population.Methods: We recruited 1,063 Japanese patients with high myopia (spherical equivalent [SE] ≤–9.00 D in both eyes) and 1,009 healthy Japanese subjects (SE >–1.00 D). We genotyped rs2009066 and three tagging single-nucleotide polymorphisms (SNPs), rs16982456, rs2071861, and rs4276, in the CRYBA4 region.Results: We did not find any significant association between these four SNPs and high myopia in an allele analysis. However, rs2009066 and rs2071861, which were in strong linkage disequilibrium (LD; r2=0.86), showed a marginal association with high myopia in the recessive genotype model of risk alleles (rs2009066 G allele: P=0.032, odds ratio [OR] =1.31; rs2071861 A allele: P=0.037, OR =1.31). Nevertheless, this association became insignificant after correcting for multiple testing (Pc >0.05).Conclusion: This study showed no significant association between CRYBA4 variants and high myopia in a Japanese population. Our findings did not correspond with a previous study. Further genetic studies with other populations are needed to elucidate a potential contribution of the CRYBA4 region in the development of high myopia. Keywords: high myopia, CRYBA4, association study, polymorphism Kawagoe TOta MMeguro ATakeuchi MYamane TShimazaki HTakeuchi MOkada ETeshigawara TMizuki NDove Medical Pressarticlehigh myopiaCRYBA4association studypolymorphismOphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 11, Pp 2151-2156 (2017)
institution DOAJ
collection DOAJ
language EN
topic high myopia
CRYBA4
association study
polymorphism
Ophthalmology
RE1-994
spellingShingle high myopia
CRYBA4
association study
polymorphism
Ophthalmology
RE1-994
Kawagoe T
Ota M
Meguro A
Takeuchi M
Yamane T
Shimazaki H
Takeuchi M
Okada E
Teshigawara T
Mizuki N
Associations between CRYBA4 gene variants and high myopia in a Japanese population
description Tatsukata Kawagoe,1 Masao Ota,1,2 Akira Meguro,1 Masaki Takeuchi,1 Takahiro Yamane,1 Haruna Shimazaki,3 Masaru Takeuchi,3 Eiichi Okada,4 Takeshi Teshigawara,1,5,6 Nobuhisa Mizuki1 1Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, 2Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, 3Department of Ophthalmology, National Defense Medical College, Tokorozawa, 4Okada Eye Clinic, Yokohama, 5Yokosuka Chuoh Eye Clinic, Yokosuka, 6Tsurumi Chuoh Eye Clinic, Yokohama, Japan Purpose: The crystallin beta A4 (CRYBA4) gene variant, rs2009066, was previously reported to be associated with high myopia in a southern Chinese population. In the present study, we investigated whether CRYBA4 variants were associated with high myopia in a Japanese population.Methods: We recruited 1,063 Japanese patients with high myopia (spherical equivalent [SE] ≤–9.00 D in both eyes) and 1,009 healthy Japanese subjects (SE >–1.00 D). We genotyped rs2009066 and three tagging single-nucleotide polymorphisms (SNPs), rs16982456, rs2071861, and rs4276, in the CRYBA4 region.Results: We did not find any significant association between these four SNPs and high myopia in an allele analysis. However, rs2009066 and rs2071861, which were in strong linkage disequilibrium (LD; r2=0.86), showed a marginal association with high myopia in the recessive genotype model of risk alleles (rs2009066 G allele: P=0.032, odds ratio [OR] =1.31; rs2071861 A allele: P=0.037, OR =1.31). Nevertheless, this association became insignificant after correcting for multiple testing (Pc >0.05).Conclusion: This study showed no significant association between CRYBA4 variants and high myopia in a Japanese population. Our findings did not correspond with a previous study. Further genetic studies with other populations are needed to elucidate a potential contribution of the CRYBA4 region in the development of high myopia. Keywords: high myopia, CRYBA4, association study, polymorphism 
format article
author Kawagoe T
Ota M
Meguro A
Takeuchi M
Yamane T
Shimazaki H
Takeuchi M
Okada E
Teshigawara T
Mizuki N
author_facet Kawagoe T
Ota M
Meguro A
Takeuchi M
Yamane T
Shimazaki H
Takeuchi M
Okada E
Teshigawara T
Mizuki N
author_sort Kawagoe T
title Associations between CRYBA4 gene variants and high myopia in a Japanese population
title_short Associations between CRYBA4 gene variants and high myopia in a Japanese population
title_full Associations between CRYBA4 gene variants and high myopia in a Japanese population
title_fullStr Associations between CRYBA4 gene variants and high myopia in a Japanese population
title_full_unstemmed Associations between CRYBA4 gene variants and high myopia in a Japanese population
title_sort associations between cryba4 gene variants and high myopia in a japanese population
publisher Dove Medical Press
publishDate 2017
url https://doaj.org/article/d7b430249c4d435685fccee5324f47fb
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