AI Article Synopsis
- The pachychoroid concept has reshaped the understanding of age-related macular degeneration (AMD), revealing a connection with central serous chorioretinopathy (CSC).
- A large genome-wide association study identified two new genetic loci linked to CSC susceptibility in a diverse sample of 1546 CSC patients and 13,029 controls.
- The findings highlight that certain risk alleles, specifically at rs13278062, are associated with both CSC and AMD, enhancing the understanding of the genetic factors involved in these diseases.
Article 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: and near (rs13278062, odds ratio = 1.35, = 1.26 × 10; rs6061548, odds ratio = 1.63, = 5.36 × 10). A T allele at 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908630 | PMC |
| http://dx.doi.org/10.1038/s42003-019-0712-z | DOI Listing |
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