Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
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2019-12-01
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Communications Biology
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Springer Science and Business Media LLC
Melbourne Authors
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Ophthalmology (Eye & Ear Hospital)
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Journal Article
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Hosoda, Y., Miyake, M., Schellevis, R. L., Boon, C. J. F., Hoyng, C. B., Miki, A., Meguro, A., Sakurada, Y., Yoneyama, S., Takasago, Y., Hata, M., Muraoka, Y., Nakanishi, H., Oishi, A., Ooto, S., Tamura, H., Uji, A., Miyata, M., Takahashi, A. ,... Tsujikawa, A. (2019). Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy. Communications Biology, 2 (1), pp.468-. https://doi.org/10.1038/s42003-019-0712-z.
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Abstract
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.