Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study

Abstract SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glauc...

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Autores principales:	Munemitsu Yoshikawa, Kenji Yamashiro, Hideo Nakanishi, Manabu Miyata, Masahiro Miyake, Yoshikatsu Hosoda, Yasuharu Tabara, Fumihiko Matsuda, Nagahisa Yoshimura, the Nagahama Study Group
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/71bb573eea1643679edd517c5032d768
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spelling	oai:doaj.org-article:71bb573eea1643679edd517c5032d7682021-12-02T12:32:17ZAssociation of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study10.1038/s41598-017-02299-72045-2322https://doaj.org/article/71bb573eea1643679edd517c5032d7682017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-02299-7https://doaj.org/toc/2045-2322Abstract SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glaucoma patients is directly related to cpRNFL thinning, a detailed sector analysis has not been performed in genetic association studies. In the present study, we evaluated 26 tagging SNPs in the SIX1/SIX6 locus ±50 kb region in a population of 2,306 Japanese subjects with 4- and 32-sector cpRNFLT analysis. While no SNPs showed a significant association with cpRNFLT in the 4-sectored analysis, the finer 32-sector assessment clearly showed a significant association between rs33912345 in the SIX1/SIX6 locus with inferior cpRNFL thinning at 292.5–303.8° (β = −4.55, P = 3.0 × 10−5). Furthermore, the fine-sectored cpRNFLT analysis indicated that SIX1/SIX6 polymorphisms would affect cpRNFL thinning at 281.3–303.8°, which corresponds to parafoveal scotoma in a visual field test of glaucoma patients.Munemitsu YoshikawaKenji YamashiroHideo NakanishiManabu MiyataMasahiro MiyakeYoshikatsu HosodaYasuharu TabaraFumihiko MatsudaNagahisa Yoshimurathe Nagahama Study GroupNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Munemitsu Yoshikawa Kenji Yamashiro Hideo Nakanishi Manabu Miyata Masahiro Miyake Yoshikatsu Hosoda Yasuharu Tabara Fumihiko Matsuda Nagahisa Yoshimura the Nagahama Study Group Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study
description	Abstract SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glaucoma patients is directly related to cpRNFL thinning, a detailed sector analysis has not been performed in genetic association studies. In the present study, we evaluated 26 tagging SNPs in the SIX1/SIX6 locus ±50 kb region in a population of 2,306 Japanese subjects with 4- and 32-sector cpRNFLT analysis. While no SNPs showed a significant association with cpRNFLT in the 4-sectored analysis, the finer 32-sector assessment clearly showed a significant association between rs33912345 in the SIX1/SIX6 locus with inferior cpRNFL thinning at 292.5–303.8° (β = −4.55, P = 3.0 × 10−5). Furthermore, the fine-sectored cpRNFLT analysis indicated that SIX1/SIX6 polymorphisms would affect cpRNFL thinning at 281.3–303.8°, which corresponds to parafoveal scotoma in a visual field test of glaucoma patients.
format	article
author	Munemitsu Yoshikawa Kenji Yamashiro Hideo Nakanishi Manabu Miyata Masahiro Miyake Yoshikatsu Hosoda Yasuharu Tabara Fumihiko Matsuda Nagahisa Yoshimura the Nagahama Study Group
author_facet	Munemitsu Yoshikawa Kenji Yamashiro Hideo Nakanishi Manabu Miyata Masahiro Miyake Yoshikatsu Hosoda Yasuharu Tabara Fumihiko Matsuda Nagahisa Yoshimura the Nagahama Study Group
author_sort	Munemitsu Yoshikawa
title	Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study
title_short	Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study
title_full	Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study
title_fullStr	Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study
title_full_unstemmed	Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study
title_sort	association of six1/six6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: the nagahama study
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/71bb573eea1643679edd517c5032d768
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Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study

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