イイダ　トモヒロ   IIDA Tomohiro   飯田　知弘    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.
掲載誌名	正式名：Proceedings of the National Academy of Sciences of the United States of America 略　 称：Proc Natl Acad Sci U S A ISSNコード：(1091-6490)0027-8424(Linking)
掲載区分	国外
巻・号・頁	115(24),pp.6261-6266
著者・共著者	Hosoda Yoshikatsu†, Yoshikawa Munemitsu, Miyake Masahiro, Tabara Yasuharu, Ahn Jeeyun, Woo Se Joon, Honda Shigeru, Sakurada Yoichi, Shiragami Chieko, Nakanishi Hideo, Oishi Akio, Ooto Sotaro, Miki Akiko, Iida Tomohiro, Iijima Hiroyuki, Nakamura Makoto, Khor Chiea Chuen, Wong Tien Yin, Song Kyuyoung, Park Kyu Hyung, Yamada Ryo, Matsuda Fumihiko, Tsujikawa Akitaka, Yamashiro Kenji
発行年月	2018/06
概要	Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 10-5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.
DOI	10.1073/pnas.1802212115
PMID	29844195