Akiko Miki1, Yoichi Sakurada2, Koji Tanaka3, Kentaro Semba4, Yoshinori Mitamura4, Mitsuko Yuzawa3, Atsushi Tajima5, Masahiro Nakatochi6, Ken Yamamoto7, Keitaro Matsuo8,9, Issei Imoto10, Shigeru Honda1,11. 1. Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan. 2. Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan. 3. Department of Ophthalmology, Nihon University School of Medicine, Tokyo, Japan. 4. Department of Ophthalmology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan. 5. Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa, Japan. 6. Statistical Analysis Section, Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan. 7. Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan. 8. Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan. 9. Division of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan. 10. Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan. 11. Department of Ophthalmology and Visual Sciences, Osaka City University Graduate School of Medicine, Osaka, Japan.
Abstract
Purpose: Central serous chorioretinopathy (CSC) is a retinal disorder that often affects the vision of middle-aged people yet the molecular mechanisms of CSC remain unknown. This study was conducted to identify genetic factors influencing individual differences in susceptibility to CSC. Methods: A two-stage genome-wide association study (GWAS) was conducted with a total of 320 unrelated Japanese idiopathic CSC cases and 3245 population-based controls. In a discovery stage, 137 unrelated Japanese idiopathic CSC cases and 1174 population-based controls were subjected to GWAS, followed by a replication study using an additional 183 individuals with idiopathic CSC and 2071 population-based volunteers. The results of the discovery and replication stages were combined to conduct a meta-analysis. Results: In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10-9, odds ratio = 2.10). Conclusions: The results of the present study demonstrated that SLC7A5 might be the potential candidate gene associated with CSC, indicating a previously unidentified molecular mechanism of CSC.
Purpose: Central serous chorioretinopathy (CSC) is a retinal disorder that often affects the vision of middle-aged people yet the molecular mechanisms of CSC remain unknown. This study was conducted to identify genetic factors influencing individual differences in susceptibility to CSC. Methods: A two-stage genome-wide association study (GWAS) was conducted with a total of 320 unrelated Japanese idiopathic CSC cases and 3245 population-based controls. In a discovery stage, 137 unrelated Japanese idiopathic CSC cases and 1174 population-based controls were subjected to GWAS, followed by a replication study using an additional 183 individuals with idiopathic CSC and 2071 population-based volunteers. The results of the discovery and replication stages were combined to conduct a meta-analysis. Results: In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10-9, odds ratio = 2.10). Conclusions: The results of the present study demonstrated that SLC7A5 might be the potential candidate gene associated with CSC, indicating a previously unidentified molecular mechanism of CSC.
Authors: Sandeep Aryal; Deepti Anand; Francisco G Hernandez; Bailey A T Weatherbee; Hongzhan Huang; Ashok P Reddy; Phillip A Wilmarth; Larry L David; Salil A Lachke Journal: Hum Genet Date: 2019-12-03 Impact factor: 4.132