Dissertation committee:
Κουτσανδρέα Χρυσάνθη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Κυριακοπούλου-Λυμπέρη Μαρία, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Γαζούλη Μαρία, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μόσχου Μαρία-Ευαγγελία, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μπρούζας Δημήτριος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μαρίνος Ευάγγελος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Χατζηστεφάνου Κλειώ, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Introduction: Glaucoma is a heterogeneous group of optic neuropathies that lead to gradual degeneration of the optic nerve and vision loss. During the pas decades, responsible genes have been identified and the theory of multifactorial heredity is being investigated for many cases of glaucoma. Purpose of this study is to investigate the distribution of polymorphisms in glutathione S-transferase M1 (GSTM1), Superoxide Dismutase 2 (SOD2) and Optic Atrophy 1 (OPA1) genes in a group of patients of Greek descent.
Patients and Method: This is a case-control study involving 106 patients with primary open-angle glaucoma (POAG) and 120 healthy controls of Greek origin. DNA samples from each of the participants was analyzed genetically for identifying polymorphisms in genes GSTM1 (polymorphism null), SOD2 (polymorphism rs4880) and OPA1 (polymorphisms rs166850, rs10451941).
Results: Carriers of the GSTM1 null genotype appear to be at increased risk of POAG (OR = 1.86, 95% CI = 1.07-3.21; p = 0.03). The results of the study show no significant correlation between polymorphisms rs166850 and rs10451941 in the OPA1 gene and PGAG. The SOD2 rs4880 polymorphism did not show a statistically significant difference in appearance between patients with POAG and healthy controls. The mean intraocular pressure of the two eyes of the heterozygote group (T / C) was significantly higher than the homozygous (T / T) group (19.13 ± 0.60 vs. 17.59 ± 0.33, p = 0.02). When we compared the intraocular pressure at each eye separately, carriers of the (T / C) and (C / C) genotypes had significantly higher intraocular pressure on their left eye compared to the genotype [(T / C) 18.79 ± 0.56 vs. (T / T) 17.2 ± 0.36, p = 0.02 and (C / C) 20.75 ± 2.14 versus (T / T) 17.2 ± 0 , 36, p = 0.03)].
Conclusions: The GSTM1 null genotype appears to be associated with an increased risk of POAG in the Greek population. There was no significant correlation between polymorphisms in OPA1 studied and POAG. Our study did not find any significant correlation between SOD2 rs4880 polymorphism and POAG . The average intraocular pressure of the C allele carriers in homozygous or heterozygous form was found to be significantly higher than in the homozygous (T / T) group. Since we can not reject the possibility that oxidative stress may be a determining factor in the development of POAG, further studies may be needed to confirm the importance of the SOD2 gene in the pathogenesis of the disease.
Keywords:
Glaucoma, Genes, GSTM1, SOD2, OPA1
