Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

• Published in: Communications biology Vol. 2; no. 1; p. 468
• Main Authors: Hosoda, Yoshikatsu, Miyake, Masahiro, 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, Uji, Akihito, Miyata, Manabu, Takahashi, Ayako, Ueda-Arakawa, Naoko, Tajima, Atsushi, Sato, Takehiro, Mizuki, Nobuhisa, Shiragami, Chieko, Iida, Tomohiro, Khor, Chiea Chuen, Wong, Tien Yin, Yamada, Ryo, Honda, Shigeru, de Jong, Eiko K., Hollander, Anneke I. den, Matsuda, Fumihiko, Yamashiro, Kenji, Tsujikawa, Akitaka
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12.12.2019; Nature Publishing Group
• Subjects: 45/43; 631/208/205/2138; 692/699/3161/3175; Age; Alleles; Biology; Biomedical and Life Sciences; Blindness; Case-Control Studies; Central Serous Chorioretinopathy - epidemiology; Central Serous Chorioretinopathy - genetics; Computational Biology - methods; Databases, Genetic; Europe - epidemiology; Female; Gene Expression; Genetic Loci; Genetic Predisposition to Disease; Genome-wide association studies; Genome-Wide Association Study; Genomes; Humans; Life Sciences; Macular degeneration; Male; Odds Ratio; Pathogenesis; Quantitative Trait Loci; Europe; Retinal diseases; Genome-wide association studies
• ISSN: 2399-3642; 2399-3642
• DOI: 10.1038/s42003-019-0712-z

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. Yoshikatsu Hosoda et al. present a genome-wide association study in Japanese and European cohorts, identifying genes related to central serous chorioretinopathy pathogenesis. They report two novel susceptibility loci, one of which is a known risk allele for age-related macular degeneration.