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
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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