Journal Article CFHandVIPR2as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy

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

中心性漿液性網脈絡膜症に関わる遺伝子変異を発見 --日本人に多い特殊なタイプの加齢黄斑変性の原因も解明--. 京都大学プレスリリース. 2018-05-31.
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.

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