A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration

A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration

Abstract Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality ha...

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Autores principales: Kyoko Kawashima-Kumagai, Kenji Yamashiro, Munemitsu Yoshikawa, Masahiro Miyake, Gemmy Cheung Chui Ming, Qiao Fan, Jia Yu Koh, Masaaki Saito, Masako Sugahara-Kuroda, Maho Oishi, Yumiko Akagi-Kurashige, Isao Nakata, Hideo Nakanishi, Norimoto Gotoh, Akio Oishi, Hiroshi Tamura, Sotaro Ooto, Akitaka Tsujikawa, Yasuo Kurimoto, Tetsuju Sekiryu, Fumihiko Matsuda, Chiea-Chuen Khor, Ching-Yu Cheng, Tien Yin Wong, Nagahisa Yoshimura
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Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/51f45ede27f14284a3b7850c22ea583a
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spelling oai:doaj.org-article:51f45ede27f14284a3b7850c22ea583a2021-12-02T11:53:04ZA genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration10.1038/s41598-017-07526-92045-2322https://doaj.org/article/51f45ede27f14284a3b7850c22ea583a2017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-07526-9https://doaj.org/toc/2045-2322Abstract Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality has been rarely reported. In the present study, we performed GWAS using neovascular AMD cases in East Asian. The discovery stage compared 581,252 single nucleotide polymorphisms (SNPs) between 803 unilateral and 321 bilateral Japanese cases but no SNP showed genome-wide significance, while SNPs at six regions showed P-value < 1.0 × 10−5, STON1-GTF2A1L/LHCGR/FSHR, PLXNA1, CTNNA3, ARMS2/HTRA1, LHFP, and FLJ38725. The first replication study for these six regions comparing 36 bilateral and 132 unilateral Japanese cases confirmed significant associations of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR), rs2284665 (ARMS2/HTRA1), and rs8002574 (LHFP) to bilaterality. In the second replication study comparing 24 bilateral and 78 unilateral cases from Singapore, rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) only showed significant association. Meta-analysis of discovery and replication studies confirmed genome-wide level significant association (P = 2.61 × 10−9) of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) and strong associations (P = 5.76 × 10−7 and 9.73 × 10−7, respectively) of rs2284665 (ARMS2/HTRA1) and rs8002574 (LHFP). Our GWAS for neovascular AMD bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR and confirmed the previously reported association of ARMS2/HTRA1.Kyoko Kawashima-KumagaiKenji YamashiroMunemitsu YoshikawaMasahiro MiyakeGemmy Cheung Chui MingQiao FanJia Yu KohMasaaki SaitoMasako Sugahara-KurodaMaho OishiYumiko Akagi-KurashigeIsao NakataHideo NakanishiNorimoto GotohAkio OishiHiroshi TamuraSotaro OotoAkitaka TsujikawaYasuo KurimotoTetsuju SekiryuFumihiko MatsudaChiea-Chuen KhorChing-Yu ChengTien Yin WongNagahisa YoshimuraNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Kyoko Kawashima-Kumagai
Kenji Yamashiro
Munemitsu Yoshikawa
Masahiro Miyake
Gemmy Cheung Chui Ming
Qiao Fan
Jia Yu Koh
Masaaki Saito
Masako Sugahara-Kuroda
Maho Oishi
Yumiko Akagi-Kurashige
Isao Nakata
Hideo Nakanishi
Norimoto Gotoh
Akio Oishi
Hiroshi Tamura
Sotaro Ooto
Akitaka Tsujikawa
Yasuo Kurimoto
Tetsuju Sekiryu
Fumihiko Matsuda
Chiea-Chuen Khor
Ching-Yu Cheng
Tien Yin Wong
Nagahisa Yoshimura
A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
description Abstract Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality has been rarely reported. In the present study, we performed GWAS using neovascular AMD cases in East Asian. The discovery stage compared 581,252 single nucleotide polymorphisms (SNPs) between 803 unilateral and 321 bilateral Japanese cases but no SNP showed genome-wide significance, while SNPs at six regions showed P-value < 1.0 × 10−5, STON1-GTF2A1L/LHCGR/FSHR, PLXNA1, CTNNA3, ARMS2/HTRA1, LHFP, and FLJ38725. The first replication study for these six regions comparing 36 bilateral and 132 unilateral Japanese cases confirmed significant associations of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR), rs2284665 (ARMS2/HTRA1), and rs8002574 (LHFP) to bilaterality. In the second replication study comparing 24 bilateral and 78 unilateral cases from Singapore, rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) only showed significant association. Meta-analysis of discovery and replication studies confirmed genome-wide level significant association (P = 2.61 × 10−9) of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) and strong associations (P = 5.76 × 10−7 and 9.73 × 10−7, respectively) of rs2284665 (ARMS2/HTRA1) and rs8002574 (LHFP). Our GWAS for neovascular AMD bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR and confirmed the previously reported association of ARMS2/HTRA1.
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author Kyoko Kawashima-Kumagai
Kenji Yamashiro
Munemitsu Yoshikawa
Masahiro Miyake
Gemmy Cheung Chui Ming
Qiao Fan
Jia Yu Koh
Masaaki Saito
Masako Sugahara-Kuroda
Maho Oishi
Yumiko Akagi-Kurashige
Isao Nakata
Hideo Nakanishi
Norimoto Gotoh
Akio Oishi
Hiroshi Tamura
Sotaro Ooto
Akitaka Tsujikawa
Yasuo Kurimoto
Tetsuju Sekiryu
Fumihiko Matsuda
Chiea-Chuen Khor
Ching-Yu Cheng
Tien Yin Wong
Nagahisa Yoshimura
author_facet Kyoko Kawashima-Kumagai
Kenji Yamashiro
Munemitsu Yoshikawa
Masahiro Miyake
Gemmy Cheung Chui Ming
Qiao Fan
Jia Yu Koh
Masaaki Saito
Masako Sugahara-Kuroda
Maho Oishi
Yumiko Akagi-Kurashige
Isao Nakata
Hideo Nakanishi
Norimoto Gotoh
Akio Oishi
Hiroshi Tamura
Sotaro Ooto
Akitaka Tsujikawa
Yasuo Kurimoto
Tetsuju Sekiryu
Fumihiko Matsuda
Chiea-Chuen Khor
Ching-Yu Cheng
Tien Yin Wong
Nagahisa Yoshimura
author_sort Kyoko Kawashima-Kumagai
title A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
title_short A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
title_full A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
title_fullStr A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
title_full_unstemmed A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
title_sort genome-wide association study identified a novel genetic loci ston1-gtf2a1l/lhcgr/fshr for bilaterality of neovascular age-related macular degeneration
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/51f45ede27f14284a3b7850c22ea583a
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