Τίτλος:
Polymorphism analysis of COL4A3 and COL4A4 genes in greek patients with keratoconus
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Materials and 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. © 2014 Informa Healthcare USA, Inc. All rights reserved.
Συγγραφείς:
Kokolakis, N.S.
Gazouli, M.
Chatziralli, I.P.
Koutsandrea, C.
Gatzioufas, Z.
Peponis, V.G.
Droutsas, K.D.
Kalogeropoulos, C.
Anagnou, N.
Miltsakakis, D.
Moschos, M.M.
Περιοδικό:
Ophthalmic Genetics
Εκδότης:
LIBRAPHARM/INFORMA HEALTHCARE
Λέξεις-κλειδιά:
DNA; autoantigen; COL4A4 protein, human; collagen type 4; type IV collagen alpha3 chain, adolescent; adult; Article; case control study; clinical article; col4a3 gene; col4a4 gene; control; controlled study; d326y gene; DNA polymorphism; DNA sequence; f1644f gene; family history; female; gene; gene frequency; genetic risk; genotype; health survey; human; keratoconus; m1327v gene; male; aged; genetics; genotyping technique; Greece; keratoconus; middle aged; mutation; polymerase chain reaction; single nucleotide polymorphism; young adult, Adolescent; Adult; Aged; Autoantigens; Case-Control Studies; Collagen Type IV; Female; Gene Frequency; Genotyping Techniques; Greece; Humans; Keratoconus; Male; Middle Aged; Mutation; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Young Adult
DOI:
10.3109/13816810.2014.946055
