title: Polymorphism analysis of COL4A3 and COL4A4 genes in Greek patients with keratoconus.
abstract: BACKGROUND
  In this study, we conducted the genotyping of D326Y in COL4A3 and M1327V, as well as F1644F in COL4A4 polymorphisms, in a case-control sample panel of Greek origin population.
  
  
  METHODS
  A case-control panel, with 45 keratoconus (KC) patients and 78 healthy controls, were surveyed. DNA from each individual was tested for the D326Y in COL4A3 and M1327V, as well as F1644F in COL4A4 polymorphisms by direct sequencing.
  
  
  RESULTS
  When analyzing the Hardy-Weinberg equilibrium, we observed no significant deviation from expected numbers in both KC patients and controls. The genotype frequencies in the polymorphisms tested were not found to be significantly associated with KC development risk. The M1327V AA and F1644F TT genotypes were significantly over-represented in healthy individuals.
  
  
  CONCLUSIONS
  We could hypothesize that mutations in COL4A3 and COL4A4 genes are not involved in KC risk in Greek population. Nevertheless, the M1327V AA and F1644F TT genotypes were significantly over-represented in healthy individuals, suggesting a protective role of these genotypes in KC development risk in our population.
authors.affiliation: 1st Department of Ophthalmology .
authors.forename: Nikolaos S
authors.initials: NS
authors.lastname: Kokolakis
authors.forename: Maria
authors.initials: M
authors.lastname: Gazouli
authors.forename: Irini P
authors.initials: IP
authors.lastname: Chatziralli
authors.forename: Chryssanthi
authors.initials: C
authors.lastname: Koutsandrea
authors.forename: Zisis
authors.initials: Z
authors.lastname: Gatzioufas
authors.forename: Vasileios G
authors.initials: VG
authors.lastname: Peponis
authors.forename: Konstantinos D
authors.initials: KD
authors.lastname: Droutsas
authors.forename: Christos
authors.initials: C
authors.lastname: Kalogeropoulos
authors.forename: Nicholas
authors.initials: N
authors.lastname: Anagnou
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Miltsakakis
authors.forename: Marilita M
authors.initials: MM
authors.lastname: Moschos
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001324:Autoantigens / Q000235:genetics*; D016022:Case-Control Studies; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D006115:Greece; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain
keywords: COL4A3; COL4A4; SNPs; keratoconus