Genetic and clinical characteristics in keratoconus patients in the Greek population

Doctoral Dissertation uoadl:2751035 199 Read counter

Τομέας Χειρουργικής
Library of the School of Health Sciences
Deposit date:
Kokolakis Nikolaos
Dissertation committee:
Ευαγγελία-Μαρία Μόσχου, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Μαρία Γαζούλη, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Δημήτριος Δρούτσας, Αναπληρωτής Καθηγητής, Ιατρική, ΕΚΠΑ
Ιωάννης Λαδάς, Καθηγητής, Ιατρική, ΕΚΠΑ
Χρυσάνθη Κουτσανδρέα, Καθηγήτρια, Ιατρική, ΕΚΠΑ
Μαρία Κυριακοπούλου-Λυμπέρη, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Κλειώ Χατζηστεφάνου, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Original Title:
Γενετικά και κλινικά χαρακτηριστικά σε ασθενείς με κερατόκωνο στον ελληνικό πληθυσμό
Translated title:
Genetic and clinical characteristics in keratoconus patients in the Greek population
Background: A number of mutations have been reported to be associated with keratoconus, however the results from different studies are controversial. The data on the literature are limited and according to our knowledge, no data exist regarding the polymorphism frequencies in Greek keratoconus cases.
Purpose: In this study, we conducted the genotyping of polymorphisms D326Y (in COL4A3 gene), M1327V and F1644F (in COL4A4), D144E, H244R, R166W, G160D (in VSX1) and of the intronic 7-base deletion (c.169+50delTAAACAG, in SOD1) in a case–control sample panel of Greek origin population.
Materials and Methods: A case–control panel, with 45 keratoconus patients and 78 healthy controls, were surveyed. The diagnosis of KC was on the basis of clinical examination and was confirmed with videokeratography. DNA from 45 keratoconus patients was tested for the COL4A3 and COL4A4 genes and DNA from 33 keratoconus patients was tested for the VSX1 and SOD1. DNA from the 78 healthy controls was tested for all four genes. DNA was amplified using PCR and genotyped by direct sequencing or by RFLP.
Results: The genotype frequencies in the polymorphisms of COL4A3 and COL4A4 were not found to be significantly associated with keratoconus development risk. However the M1327V AA and F1644F TT genotypes were significantly over-represented in healthy individuals. We observed no polymorphisms of the VSX1 gene in the case–control panel. Concerning the SOD1 intronic 7-base deletion, heterozygous carriers are overrepresented among keratoconus cases compared to healthy controls.
Conclusions: Based on our results, we could hypothesize that mutations in COL4A3 and COL4A4 genes are not involved in keratoconus risk in Greek population. Nevertheless, the M1327V AA and F1644F TT genotypes seem to have a protective role in keratoconus development risk. We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus. Our results suggest a possible causative role of SOD1 in the pathogenesis of keratoconus.
Main subject category:
Health Sciences
Keratoconus, Genes, Genetic, Polymorphism, Genotyping
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