Dissertation committee:
Ευαγγελία-Μαρία Μόσχου, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Δημήτριος Παπακωνσταντίνου, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μαρία Γαζούλη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Κλειώ Χατζηστεφάνου, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Νικόλαος Σιαφάκας, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ειρήνη Χατζηράλλη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Κωνσταντίνος Δρούτσας, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Central Serous Chorioretinopathy (CSCR) is a disease of unknown etiology which causes central vision disturbancies due to macular serous detachment of the neurosensory retina. Several genetic polymorphisms have been found in studies to be associated with CSCR development. Among the polymorphisms that have been studied for possible association with CSCR are rs10490924 polymorphism of ARMS2 gene, rs2070951 and rs5522 polymorphisms of NR3C2 gene. The aim of our study was to investigate, for first time in a Greek population, the possible associations of the above mentioned polymorphisms (ARMS2rs10490924, NR3C2rs2070951 and NR3C2rs5522) with CSCR. In our study (case-control study), we recruited 48 CSCR patients and 137 controls from the First Department of Ophthalmology of the National and Kapodistrian University of Athens. After the analysis of our results, we found significant associations of both ARMS2rs10490924 and NR3C2rs2070951polymorphism. Both of them were found to increase risk for CSCR. Rs5522 of NR3C2 gene polymorphism was not found to be significantly associated with CSCR. Our results showed, for first time in a well-defined Greek cohort, that polymorphisms of ARMS2 and NR3C2 genes were significantly associated with risk of CSCR and our results support the involvement of extracellular matrix (ARMS2 gene) and mineralcorticoid receptor (NR3C2 gene) in the pathogenesis of CSCR.
Keywords:
Central serous chorioretinopathy, Genetic background, ARMS2 gene, NR3C2 gene, Retina
