GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY
Autor: | Camiel J. F. Boon, Sascha Fauser, Danial Mohabati, Suzanne Yzer, Anneke I. den Hollander, Carel B. Hoyng, Eiko K. de Jong, Rosa L. Schellevis, Elon H.C. van Dijk |
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Přispěvatelé: | Ophthalmology, ANS - Complex Trait Genetics |
Rok vydání: | 2020 |
Předmět: |
Male
0301 basic medicine endocrine system diseases Genotyping Techniques genetic association Gene Dosage NR3C2 complement component 4 Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] 0302 clinical medicine Gene Frequency Risk Factors Medicine Original Study Genetic risk Clinical course complement factor H General Medicine Middle Aged Phenotype female genital diseases and pregnancy complications severe CSC Serous fluid Central Serous Chorioretinopathy Acute Disease Female ARMS2 Tomography Optical Coherence Adult medicine.medical_specialty chronic CSC Polymorphism Single Nucleotide 03 medical and health sciences Internal medicine Complement C4b Genetic predisposition Humans Genetic Predisposition to Disease Allele frequency Aged business.industry Proteins Odds ratio acute central serous chorioretinopathy Confidence interval Ophthalmology Receptors Mineralocorticoid 030104 developmental biology Case-Control Studies 030221 ophthalmology & optometry business |
Zdroj: | Retina-The Journal of Retinal and Vitreous Diseases, 40, 1734-1741 RETINA, The Journal of Retinal and Vitreous Diseases, 40(9), 1734-1741. LIPPINCOTT WILLIAMS & WILKINS Retina-The Journal of Retinal and Vitreous Diseases, 40, 9, pp. 1734-1741 Retina (Philadelphia, Pa.) Retina (Philadelphia, Pa.), 40(9), 1734-1741. Lippincott Williams and Wilkins |
ISSN: | 0275-004X |
Popis: | Supplemental Digital Content is Available in the Text. There is a similar genetic association among different phenotypes of central serous chorioretinopathy and variants in the complement system genes. However, this study was unable to demonstrate an association with central serous chorioretinopathy severity. The relevance of these findings is that different central serous chorioretinopathy phenotypes may share a similar genetic predisposition and possibly also pathophysiology, whereas other genetic or nongenetic risk factors may play a larger role in determining the clinical course of central serous chorioretinopathy. Purpose: To study genetic predispositions and differences between severe chronic central serous chorioretinopathy (cCSC), nonsevere cCSC, and acute central serous chorioretinopathy (aCSC). Methods: One hundred seventy-three severe cCSC patients, 272 nonsevere cCSC patients, 135 aCSC patients, and 1,385 control individuals were included. Eight single-nucleotide polymorphisms were genotyped in the ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Additionally, C4B gene copy numbers were analyzed. Results: A significant association in 5 single-nucleotide polymorphisms in the CFH gene could be reproduced among severe cCSC patients, including rs800292 (P = 0.0014; odds ratio [OR] = 1.93; 95% confidence interval [CI] = 1.51–2.47), rs1065489 (P = 2.22 × 10−4; OR = 0.49; 95% CI = 0.34–0.72), rs1329428 (P = 0.001; OR = 1.89; 95% CI = 1.49–2.40), rs2284664 (P = 1.21× 10−4; OR = 1.65; 95% CI = 1.28–2.13), and rs3753394 (P = 6.10× 10−4; OR = 0.61; 95% CI = 0.46–0.81). Carrying three C4B copies was protective for severe cCSC (P = 0.001; OR = 0.29; 95% CI = 0.14–0.61). No significant differences in allele frequencies could be found among the CSC phenotypes. Conclusion: Acute CSC, nonsevere cCSC, and severe cCSC all showed a similar association with the CFH and C4B genes, and the three phenotypes could not be distinguished based on the genetics. This shows that despite the differences in clinical presentation and severity, there is an overlap in the genetic predisposition of different CSC phenotypes. Nongenetic factors may play a more important role in determining the clinical course of CSC. |
Databáze: | OpenAIRE |
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