September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Association analysis of functional variants in blood pressure regulation, blood clot formation and stress hormone binding genes with chronic central serous chorioretinopathy (cCSC)
Author Affiliations & Notes
  • Roos Schellevis
    Ophthalmology, Radboudumc Nijmegen, Nijmegen, Netherlands
  • Myrte Breukink
    Ophthalmology, Radboudumc Nijmegen, Nijmegen, Netherlands
  • Elon H.C. Van Dijk
    Ophthalmology, Leiden University Medical Centre, Leiden, Netherlands
  • Sascha Fauser
    Ophthalmology, University Hospital of Cologne, Cologne, Germany
  • Camiel J F Boon
    Ophthalmology, Leiden University Medical Centre, Leiden, Netherlands
  • Eiko de Jong
    Ophthalmology, Radboudumc Nijmegen, Nijmegen, Netherlands
  • Anneke I Den Hollander
    Ophthalmology, Radboudumc Nijmegen, Nijmegen, Netherlands
  • Footnotes
    Commercial Relationships   Roos Schellevis, None; Myrte Breukink, None; Elon Van Dijk, None; Sascha Fauser, None; Camiel Boon, None; Eiko de Jong, None; Anneke Den Hollander, None
  • Footnotes
    Support  Macula Vision Research Foundation
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 646. doi:
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      Roos Schellevis, Myrte Breukink, Elon H.C. Van Dijk, Sascha Fauser, Camiel J F Boon, Eiko de Jong, Anneke I Den Hollander; Association analysis of functional variants in blood pressure regulation, blood clot formation and stress hormone binding genes with chronic central serous chorioretinopathy (cCSC). Invest. Ophthalmol. Vis. Sci. 2016;57(12):646.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Currently the disease mechanism of cCSC is still unknown, but several clinical associations have been reported. A candidate gene analysis was performed to assess whether genes in pathways important in blood pressure regulation, blood clot formation and stress hormone binding might be implicated in the etiology of cCSC.

Methods : Functional variants were selected based on literature in the following genes: Glucocorticoid receptor (GR): NR3C1 (rs6198, rs56149945, rs41423247), Mineralocorticoid receptor (MR): NR3C2 (rs5522, rs2070951), Renin-Angiotensin-Aldesterone-System (RAAS): ACE2 (rs2285666), REN (rs6682082), AGT (rs699), AGTR1 (rs5186), CYP11B2 (rs1799998), Coagulation pathway: MTHFR (rs1801133), FV (rs6025) and F2 (rs1799963). A cohort of 197 Caucasian cCSC patients, 176 controls from the blood bank of the Radboudumc, Nijmegen, the Netherlands and 637 controls from the European Genetic Database (EUGENDA, www.eugenda.org) were genotyped for these SNPs. Additionally, SNPs that showed significant associations (p <0.05) were tested in a replication cohort consisting of 134 cCSC patients (Radboudumc Nijmegen, the Netherlands; n=37, University Hospital of Cologne, Cologne, Germany; n=30, Leiden University Medical Centre, Leiden, the Netherlands; n=72) and 721 EUGENDA controls. Statistical associations were calculated using the Chi-square or Fisher Exact test.

Results : In the initial cohort, rs1799963 (F2) and rs6025 (F5) were associated to cCSC on the allele level in male patients only, p=0.013 (OR=3,54; 95%CI=1,22-10,30) and p=0.019 (OR= 0,21; 95%CI=0,05-0,89), respectively. The rs5522 SNP in NR3C2 was significant on the genotype level in female cCSC patients only (p=0.015). After testing these three SNPs in the replication cohort, none of the associations from the initial cohort were replicated.

Conclusions : Previously described functional variants in specific genes of the blood coagulation pathway, RAAS system, MR, and GR are not associated with cCSC.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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