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Title: Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
Authors: Hosoda, Yoshikatsu
Miyake, Masahiro  kyouindb  KAKEN_id
Schellevis, Rosa L.
Boon, Camiel J. F.
Hoyng, Carel B.
Miki, Akiko
Meguro, Akira
Sakurada, Yoichi
Yoneyama, Seigo
Takasago, Yukari
Hata, Masayuki
Muraoka, Yuki
Nakanishi, Hideo
Oishi, Akio
Ooto, Sotaro
Tamura, Hiroshi  kyouindb  KAKEN_id  orcid (unconfirmed)
Uji, Akihito
Miyata, Manabu  kyouindb  KAKEN_id  orcid (unconfirmed)
Takahashi, Ayako  kyouindb  KAKEN_id
Ueda-Arakawa, Naoko
Tajima, Atsushi
Sato, Takehiro
Mizuki, Nobuhisa
Shiragami, Chieko
Iida, Tomohiro
Khor, Chiea Chuen
Wong, Tien Yin
Yamada, Ryo  kyouindb  KAKEN_id  orcid (unconfirmed)
Honda, Shigeru
de Jong, Eiko K.
Hollander, Anneke I. den
Matsuda, Fumihiko
Yamashiro, Kenji
Tsujikawa, Akitaka
Author's alias: 細田, 祥勝
三宅, 正裕
三木, 明子
目黒, 明
櫻田, 庸一
米山, 征吾
高砂, 縁
畑, 匡侑
村岡, 勇貴
中西, 秀雄
大石, 明生
大音, 壮太郎
田村, 寛
宇治, 彰人
宮田, 学
高橋, 綾子
上田, 奈央子
田嶋, 敦
佐藤, 丈寛
水木, 信久
白神, 千恵子
飯田, 知弘
山田, 亮
本田, 茂
松田, 文彦
山城, 健児
辻川, 明孝
Keywords: Genome-wide association studies
Retinal diseases
Issue Date: 12-Dec-2019
Publisher: Springer Nature
Journal title: Communications Biology
Volume: 2
Thesis number: 468
Abstract: The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13, 029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10−13; rs6061548, odds ratio = 1.63, P = 5.36 × 10−15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.
Description: 特殊な網膜剥離の発症に関わる遺伝子変異を発見 --中心性漿液性脈絡網膜症のゲノムワイド関連解析--. 京都大学プレスリリース. 2019-12-13.
Rights: © The Author(s) 2019. 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. To view a copy of this license, visit
DOI(Published Version): 10.1038/s42003-019-0712-z
PubMed ID: 31872073
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