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| s41598-017-07526-9.pdf | 1.87 MB | Adobe PDF | 見る/開く |
| タイトル: | A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration |
| 著者: | Kawashima-Kumagai, Kyoko Yamashiro, Kenji Yoshikawa, Munemitsu Miyake, Masahiro   Ming, Gemmy Cheung Chui Fan, Qiao Koh, Jia Yu Saito, Masaaki Sugahara-Kuroda, Masako Oishi, Maho Akagi-Kurashige, Yumiko Nakata, Isao Nakanishi, Hideo Gotoh, Norimoto Oishi, Akio  https://orcid.org/0000-0002-0977-9458 (unconfirmed)Tamura, Hiroshi https://orcid.org/0000-0002-7740-2732 (unconfirmed)Ooto, Sotaro Tsujikawa, Akitaka Kurimoto, Yasuo Sekiryu, Tetsuju Matsuda, Fumihiko Khor, Chiea-Chuen Cheng, Ching-Yu Wong, Tien Yin Yoshimura, Nagahisa |
| 著者名の別形: | 熊谷, 京子 山城, 健児 吉川, 宗光 三宅, 正裕 菅原-黒田, 麻紗子 大石, 真秀 赤木-倉重, 由美子 仲田, 勇夫 中西, 秀雄 後藤, 謙元 大石, 明生 田村, 寛 大音, 壮太郎 辻川, 明孝 松田, 文彦 吉村, 長久 |
| キーワード: | Disease genetics Retinal diseases |
| 発行日: | 3-Aug-2017 |
| 出版者: | Springer Nature |
| 誌名: | Scientific Reports |
| 巻: | 7 |
| 論文番号: | 7173 |
| 抄録: | 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. |
| 著作権等: | © The Author(s) 2017. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. |
| URI: | http://hdl.handle.net/2433/227929 |
| DOI(出版社版): | 10.1038/s41598-017-07526-9 |
| PubMed ID: | 28775256 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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