BACKGROUND: A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169 + 50 delTAAACAG)], in a case-control sample panel of the Greek population. MATERIALS AND METHODS: A case-control panel, with 33 KC patients and 78 healthy controls, were surveyed. DNA from each individual was tested for the VSX1: D144E, H244R, R166W, G160D and SOD1: intronic 7-base deletion (c.169 + 50 delTAAACAG) polymorphisms by direct sequencing. RESULTS: We observed no polymorphisms of the VSX1 gene in the case-control panel. Concerning the SOD1 intronic 7-base deletion (c.169 + 50 delTAAACAG), our findings suggest that heterozygous carriers are over-represented among KC cases compared to healthy controls (p = 0.002). CONCLUSIONS: We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with KC. Our results suggest a possible causative role of SOD1 in the pathogenesis of KC. Further studies are required to identify other important genetic factors involved in the pathogenesis and progression of KC.
BACKGROUND: A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169 + 50 delTAAACAG)], in a case-control sample panel of the Greek population. MATERIALS AND METHODS: A case-control panel, with 33 KC patients and 78 healthy controls, were surveyed. DNA from each individual was tested for the VSX1: D144E, H244R, R166W, G160D and SOD1: intronic 7-base deletion (c.169 + 50 delTAAACAG) polymorphisms by direct sequencing. RESULTS: We observed no polymorphisms of the VSX1 gene in the case-control panel. Concerning the SOD1 intronic 7-base deletion (c.169 + 50 delTAAACAG), our findings suggest that heterozygous carriers are over-represented among KC cases compared to healthy controls (p = 0.002). CONCLUSIONS: We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with KC. Our results suggest a possible causative role of SOD1 in the pathogenesis of KC. Further studies are required to identify other important genetic factors involved in the pathogenesis and progression of KC.
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: Shi Song Rong; Sarah Tsz Ue Ma; Xin Ting Yu; Li Ma; Wai Kit Chu; Tommy Chung Yan Chan; Yu Meng Wang; Alvin L Young; Chi Pui Pang; Vishal Jhanji; Li Jia Chen Journal: Sci Rep Date: 2017-07-04 Impact factor: 4.379
Authors: Diego Nery Benevides Gadelha; Alex Felipe Barbosa Feitosa; Rafaela Gomes da Silva; Luana Talita Antunes; Matheus Cavalcanti Muniz; Matheus Alencar de Oliveira; Dáfine de Oliveira Andrade; Nathalia Mayanna da Paz Silva; Sebastião Cronemberger; Bruno Luiz Fonseca Schamber-Reis Journal: J Ophthalmic Vis Res Date: 2020-04-06