Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy.
JAMA Ophthalmol
; 135(5): 446-451, 2017 05 01.
Article
in En
| MEDLINE
| ID: mdl-28334414
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, andParticipants:
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 andMeasures:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Receptors, Mineralocorticoid
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Genetic Predisposition to Disease
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Polymorphism, Single Nucleotide
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Central Serous Chorioretinopathy
Type of study:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limits:
Female
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Humans
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Male
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Middle aged
Language:
En
Journal:
JAMA Ophthalmol
Year:
2017
Document type:
Article
Affiliation country:
Países Bajos