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GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES 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,...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Retina
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447124/ https://www.ncbi.nlm.nih.gov/pubmed/31815877 http://dx.doi.org/10.1097/IAE.0000000000002682 |
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author | Mohabati, Danial Schellevis, Rosa L. van Dijk, Elon H. C. Fauser, Sascha den Hollander, Anneke I. Hoyng, Carel B. De Jong, Eiko K. Yzer, Suzanne Boon, Camiel J. F. |
author_facet | Mohabati, Danial Schellevis, Rosa L. van Dijk, Elon H. C. Fauser, Sascha den Hollander, Anneke I. Hoyng, Carel B. De Jong, Eiko K. Yzer, Suzanne Boon, Camiel J. F. |
author_sort | Mohabati, Danial |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7447124 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Retina |
record_format | MEDLINE/PubMed |
spelling | pubmed-74471242020-09-11 GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY Mohabati, Danial Schellevis, Rosa L. van Dijk, Elon H. C. Fauser, Sascha den Hollander, Anneke I. Hoyng, Carel B. De Jong, Eiko K. Yzer, Suzanne Boon, Camiel J. F. Retina Original Study 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. Retina 2020-09 2019-12-05 /pmc/articles/PMC7447124/ /pubmed/31815877 http://dx.doi.org/10.1097/IAE.0000000000002682 Text en Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
spellingShingle | Original Study Mohabati, Danial Schellevis, Rosa L. van Dijk, Elon H. C. Fauser, Sascha den Hollander, Anneke I. Hoyng, Carel B. De Jong, Eiko K. Yzer, Suzanne Boon, Camiel J. F. GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY |
title | GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY |
title_full | GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY |
title_fullStr | GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY |
title_full_unstemmed | GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY |
title_short | GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY |
title_sort | genetic risk factors in severe, nonsevere and acute phenotypes of central serous chorioretinopathy |
topic | Original Study |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447124/ https://www.ncbi.nlm.nih.gov/pubmed/31815877 http://dx.doi.org/10.1097/IAE.0000000000002682 |
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