Proceedings of the National Academy of Sciences of the United States of America · 2018
CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.
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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, Nagahama Study Group, 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
Аннотация
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.