Universität zu Köln

Mohabati, Danial, Schellevis, Rosa L., Van Dijk, Elon H. C., Altay, Lebriz, Fauser, Sascha, Hoyng, Carel B., De Jong, Eiko K., Boon, Camiel J. F. and Yzer, Suzanne (2019). GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY. Retin.-J. Retin. Vitr. Dis., 39 (12). S. 2303 - 2311. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1539-2864

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Abstract

Purpose: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC). Methods: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed. Results: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 x 10(-6), odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients. Conclusion: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Mohabati, Danial UNSPECIFIED UNSPECIFIED UNSPECIFIED Schellevis, Rosa L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Van Dijk, Elon H. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Altay, Lebriz UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED De Jong, Eiko K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Boon, Camiel J. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yzer, Suzanne UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-125379
DOI:	10.1097/IAE.0000000000002333
Journal or Publication Title:	Retin.-J. Retin. Vitr. Dis.
Volume:	39
Number:	12
Page Range:	S. 2303 - 2311
Date:	2019
Publisher:	LIPPINCOTT WILLIAMS & WILKINS
Place of Publication:	PHILADELPHIA
ISSN:	1539-2864
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language COMPLEMENT FACTOR-H; VARIANTS; PHENOTYPES Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/12537