Universität zu Köln

van Dijk, Elon H. C., Schellevis, Rosa L., van Bergen, Maaike G. J. M., Breukink, Myrte B., Altay, Lebriz, Scholz, Paula, Fauser, Sascha, Meijer, Onno C., Hoyng, Carel B., den Hollander, Anneke I., Boon, Camiel J. F. and de Jong, Eiko K. (2017). Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy. JAMA Ophthalmol., 135 (5). S. 446 - 452. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

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Abstract

IMPORTANCE Chronic central serous chorioretinopathy (cCSC) is a chorioretinal disease with unknown disease etiology. The glucocorticoid receptor and the mineralocorticoid receptor, 2 glucocorticoid-binding receptors, might be involved in the pathogenesis of cCSC. OBJECTIVE To assess the association of functional variants and haplotypes in the glucocorticoid receptor (NR3C1) and mineralocorticoid receptor (NR3C2) genes with cCSC. DESIGN, SETTING, AND PARTICIPANTS In this case-control genetic association study, 336 patients with cCSC and 1314 unaffected controls, collected at 3 university medical centers from September 1, 2009, to May 1, 2016, underwent KASP genotyping for selected variants in NR3C1 (rs56149945, rs41423247, and rs6198) and NR3C2 (rs2070951 and rs5522). MAIN OUTCOMES AND MEASURES Genetic associations of 3 NR3C1 variants and 2 NR3C2 variants with cCSC. RESULTS Among the 336 patients (274 men and 62 women; mean [ SD] age, 52 [10] years), after correction for multiple testing, rs2070951 in the NR3C2 gene was significantly associated with cCSC (odds ratio, 1.29; 95% CI, 1.08-1.53; P = .004). Moreover, the GA haplotype of single-nucleotide polymorphisms rs2070951 and rs5522 in NR3C2 conferred risk for cCSC (odds ratio, 1.39; 95% CI, 1.15-1.68; P = .004), whereas the CA haplotype decreased risk for cCSC (odds ratio, 0.72; 95% CI, 0.60-0.87; P < .001). Three known variants in NR3C1 that alter the activity of the glucocorticoid receptor (rs56149945, rs41423247, and rs6198) were not associated with cCSC. CONCLUSIONS AND RELEVANCE In this study, the variant rs2070951 and the GA haplotype in NR3C2 were associated with an increased risk for cCSC. Results of this genetic study support a possible role for the mineralocorticoid receptor in the pathogenesis of cCSC. Since these haplotypes have previously been associated with perceived stress, this study provides a clue to bridging clinical risk factors for cCSC to underlying genetic associations.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code van Dijk, Elon H. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schellevis, Rosa L. UNSPECIFIED UNSPECIFIED UNSPECIFIED van Bergen, Maaike G. J. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Breukink, Myrte B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Altay, Lebriz UNSPECIFIED UNSPECIFIED UNSPECIFIED Scholz, Paula UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED Meijer, Onno C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED den Hollander, Anneke I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Boon, Camiel J. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED de Jong, Eiko K. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-232418
DOI:	10.1001/jamaophthalmol.2017.0245
Journal or Publication Title:	JAMA Ophthalmol.
Volume:	135
Number:	5
Page Range:	S. 446 - 452
Date:	2017
Publisher:	AMER MEDICAL ASSOC
Place of Publication:	CHICAGO
ISSN:	2168-6173
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language POLYMORPHISM; CORTICOSTEROIDS; IDENTIFICATION; SENSITIVITY; EPLERENONE; VARIANTS Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23241