Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population

Nobuyuki Kanemaki,1 Akira Meguro,2 Takahiro Yamane,2 Masaki Takeuchi,2,3 Eiichi Okada,4 Yasuhito Iijima,5 Nobuhisa Mizuki2 1Veterinary Teaching Hospital, Azabu University, Sagamihara, 2Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Ka...

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Autores principales:	Kanemaki N, Meguro A, Yamane T, Takeuchi M, Okada E, Iijima Y, Mizuki N
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2015
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/6331f8ff64a84409b809fa411e1bae44
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spelling	oai:doaj.org-article:6331f8ff64a84409b809fa411e1bae442021-12-02T00:58:38ZStudy of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population1177-5483https://doaj.org/article/6331f8ff64a84409b809fa411e1bae442015-10-01T00:00:00Zhttps://www.dovepress.com/study-of-association-of-pax6-polymorphisms-with-susceptibility-to-high-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Nobuyuki Kanemaki,1 Akira Meguro,2 Takahiro Yamane,2 Masaki Takeuchi,2,3 Eiichi Okada,4 Yasuhito Iijima,5 Nobuhisa Mizuki2 1Veterinary Teaching Hospital, Azabu University, Sagamihara, 2Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan; 3Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; 4Okada Eye Clinic, 5Aoto Eye Clinic, Yokohama, Kanagawa, Japan Purpose: Many studies have investigated the relationship of paired box 6 (PAX6) gene polymorphisms with the risk of high myopia, but the results across studies remain inconsistent and ambiguous. In the present work, we investigated whether PAX6 polymorphisms are associated with high myopia in a Japanese population.Methods: A total of 1,585 Japanese patients with high myopia (spherical equivalent [SE] <-9.00 diopters [D]) and 1,011 Japanese healthy controls (SE≥-1.00 D) were recruited. To compare genotype frequencies between cases and controls, we genotyped five single nucleotide polymorphisms in the PAX6 gene that are reportedly associated with high/extreme myopia: rs662702, rs3026393, rs644242, rs3026390, and rs667773.Results: For rs662702, rs644242, and rs667773, odds ratios (ORs) for their risk alleles tended to increase with the progression of SE and axial length in the additive and recessive models. Of these, rs644242 had the highest OR (2.56) in patients with SE<-15 D in both eyes in the recessive model. On the other hand, for rs3026393 and rs3026390, the ORs for their risk alleles tended to increase according to the progression of SE and axial length in the dominant model. Of the two, rs3026393 had the highest OR (2.32) in patients with SE<-15 D in both eyes in the dominant model. However, no significant associations were identified in this study.Conclusion: We found that these PAX6 single nucleotide polymorphisms were associated with an increased risk of extreme myopia. Although the results, which are in agreement with some previous studies, did not reach statistical significance, PAX6 single nucleotide polymorphisms may be important risk factors for the development of extreme myopia. Further genetic studies with larger sample sizes and taking into account the degree of myopia are needed to clarify the contribution of PAX6 variants in myopia development. Keywords: high myopia, PAX6, association study, polymorphismKanemaki NMeguro AYamane TTakeuchi MOkada EIijima YMizuki NDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2015, Iss default, Pp 2005-2011 (2015)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Kanemaki N Meguro A Yamane T Takeuchi M Okada E Iijima Y Mizuki N Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population
description	Nobuyuki Kanemaki,1 Akira Meguro,2 Takahiro Yamane,2 Masaki Takeuchi,2,3 Eiichi Okada,4 Yasuhito Iijima,5 Nobuhisa Mizuki2 1Veterinary Teaching Hospital, Azabu University, Sagamihara, 2Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan; 3Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; 4Okada Eye Clinic, 5Aoto Eye Clinic, Yokohama, Kanagawa, Japan Purpose: Many studies have investigated the relationship of paired box 6 (PAX6) gene polymorphisms with the risk of high myopia, but the results across studies remain inconsistent and ambiguous. In the present work, we investigated whether PAX6 polymorphisms are associated with high myopia in a Japanese population.Methods: A total of 1,585 Japanese patients with high myopia (spherical equivalent [SE] <-9.00 diopters [D]) and 1,011 Japanese healthy controls (SE≥-1.00 D) were recruited. To compare genotype frequencies between cases and controls, we genotyped five single nucleotide polymorphisms in the PAX6 gene that are reportedly associated with high/extreme myopia: rs662702, rs3026393, rs644242, rs3026390, and rs667773.Results: For rs662702, rs644242, and rs667773, odds ratios (ORs) for their risk alleles tended to increase with the progression of SE and axial length in the additive and recessive models. Of these, rs644242 had the highest OR (2.56) in patients with SE<-15 D in both eyes in the recessive model. On the other hand, for rs3026393 and rs3026390, the ORs for their risk alleles tended to increase according to the progression of SE and axial length in the dominant model. Of the two, rs3026393 had the highest OR (2.32) in patients with SE<-15 D in both eyes in the dominant model. However, no significant associations were identified in this study.Conclusion: We found that these PAX6 single nucleotide polymorphisms were associated with an increased risk of extreme myopia. Although the results, which are in agreement with some previous studies, did not reach statistical significance, PAX6 single nucleotide polymorphisms may be important risk factors for the development of extreme myopia. Further genetic studies with larger sample sizes and taking into account the degree of myopia are needed to clarify the contribution of PAX6 variants in myopia development. Keywords: high myopia, PAX6, association study, polymorphism
format	article
author	Kanemaki N Meguro A Yamane T Takeuchi M Okada E Iijima Y Mizuki N
author_facet	Kanemaki N Meguro A Yamane T Takeuchi M Okada E Iijima Y Mizuki N
author_sort	Kanemaki N
title	Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population
title_short	Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population
title_full	Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population
title_fullStr	Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population
title_full_unstemmed	Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population
title_sort	study of association of pax6 polymorphisms with susceptibility to high myopia in a japanese population
publisher	Dove Medical Press
publishDate	2015
url	https://doaj.org/article/6331f8ff64a84409b809fa411e1bae44
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Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population

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