Journal article

CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy

Yoshikatsu Hosoda, Munemitsu Yoshikawa, Masahiro Miyake, Yasuharu Tabara, Jeeyun Ahn, Se Joon Woo, Shigeru Honda, Yoichi Sakurada, Chieko Shiragami, Hideo Nakanishi, Akio Oishi, Sotaro Ooto, Akiko Miki, Tomohiro Iida, Hiroyuki Iijima, Makoto Nakamura, Chiea Chuen Khor, Tien Yin Wong, Kyuyoung Song, Kyu Hyung Park Show all

Proceedings of the National Academy of Sciences of USA | NATL ACAD SCIENCES | Published : 2018


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 ×..

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Awarded by Grants-in-Aid for Scientific Research

Funding Acknowledgements

We thank Ms. Hatsue Hamanaka for her assistance in genotyping. We also thank the Nagahama City Office and the nonprofit organization Zeroji Club for help in conducting the Nagahama Study. This study was supported by a University Grant from Kyoto University; a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science & Technology in Japan; the Center of Innovation Program and the Global University Project from Japan Science and Technology Agency; the Practical Research Project for Rare/Intractable Diseases and the Comprehensive Research on Aging and Health Science Research Grants for Dementia R&D from Japan Agency for Medical Research and Development; and a research grant from the Takeda Science Foundation.