PURPOSE: The visual system homeobox 1 (VSX1) gene variants have recently been shown to be associated with keratoconus. To replicate this finding, we performed a genetic analysis of the VSX1 gene in a Korean case-control sample. METHODS: Patients with keratoconus and healthy control subjects were recruited from Seoul National University Hospital. A diagnosis of keratoconus was made based on clinical examinations and the presence of characteristic topographic features. For all patients and controls, the whole coding region and the exon-intron junctions of the VSX1 gene were analyzed by direct sequencing. RESULTS: Fifty-three patients with keratoconus and 100 healthy volunteers were included. We observed 2 novel missense substitutions (Leu17Val and Val199Leu) and 1 previously reported substitution (Gly160Val) in 6 of the 53 affected probands. Because these substitutions have been identified in unaffected individuals, they were not considered to be pathogenic. No intragenic polymorphism was associated with a significantly increased risk of keratoconus. CONCLUSIONS: We cannot confirm the previously reported association of the VSX1 gene variants with keratoconus. Our results suggest that the VSX1 gene and its mutations with amino acid changes do not play a major role in the pathogenesis of keratoconus.
PURPOSE: The visual system homeobox 1 (VSX1) gene variants have recently been shown to be associated with keratoconus. To replicate this finding, we performed a genetic analysis of the VSX1 gene in a Korean case-control sample. METHODS:Patients with keratoconus and healthy control subjects were recruited from Seoul National University Hospital. A diagnosis of keratoconus was made based on clinical examinations and the presence of characteristic topographic features. For all patients and controls, the whole coding region and the exon-intron junctions of the VSX1 gene were analyzed by direct sequencing. RESULTS: Fifty-three patients with keratoconus and 100 healthy volunteers were included. We observed 2 novel missense substitutions (Leu17Val and Val199Leu) and 1 previously reported substitution (Gly160Val) in 6 of the 53 affected probands. Because these substitutions have been identified in unaffected individuals, they were not considered to be pathogenic. No intragenic polymorphism was associated with a significantly increased risk of keratoconus. CONCLUSIONS: We cannot confirm the previously reported association of the VSX1 gene variants with keratoconus. Our results suggest that the VSX1 gene and its mutations with amino acid changes do not play a major role in the pathogenesis of keratoconus.
Authors: Abra Brisbin; Gregory D Jenkins; Katarzyna A Ellsworth; Liewei Wang; Brooke L Fridley Journal: Front Genet Date: 2012-09-06 Impact factor: 4.599
Authors: Sionne E M Lucas; Tiger Zhou; Nicholas B Blackburn; Richard A Mills; Jonathan Ellis; Paul Leo; Emmanuelle Souzeau; Bronwyn Ridge; Jac C Charlesworth; Richard Lindsay; Jamie E Craig; Kathryn P Burdon Journal: PLoS One Date: 2018-06-20 Impact factor: 3.240
Authors: Ewelina Synowiec; Katarzyna A Wójcik; Anna Czubatka; Piotr Polakowski; Justyna Izdebska; Jerzy Szaflik; Janusz Błasiak; Jacek P Szaflik Journal: Arch Med Sci Date: 2015-10-12 Impact factor: 3.318