Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1080/13816810.2021.1992785 http://hdl.handle.net/11449/229938 |
Resumo: | Purpose: To identify inherited or acquired mutations in the VSX1, SOD1, TIMP3 and LOX genes from the combined analysis of corneal and blood samples from patients with Keratoconus. Methods: The casuistry was consisted of samples of peripheral blood and corneal epithelium from 35 unrelated patients with Keratoconus who were submitted to corneal crosslink treatment. Also, blood and corneal epithelium samples from 89 non-keratoconic patients were used to compose the control group. Ophthalmologic evaluations included a clinical examination, topography and tomography. DNA samples were extracted from peripheral blood and from corneal epithelium in both groups and all coding regions of the VSX1, SOD1, TIMP3 and LOX genes were amplified by polymerase chain reaction, denatured and subjected to polyacrylamide gel electrophoresis. Mutational screening was performed by single-strand conformation polymorphism and direct DNA sequencing. Results: No pathogenic variant was found in all coding regions of VSX1, SOD1, TIMP3 and LOX genes, we detected only few SNPs (single-nucleotide polymorphisms). Among the polymorphisms stand out three of them, corresponding to the synonymous exchange of amino acids: exon 3 of VSX1 Ala182Ala and exon 3 of TIMP3 His83His and Ser87Ser; in patients with Keratoconus and also in control subjects. All the polymorphisms were found in samples of corneal epithelium and corresponding blood. Conclusion: There is absence of KC pathogenic related to mutations in the VSX1, SOD1, TIMP3 and LOX genes in the studied patients. |
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Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with KeratoconusCorneaectasiagenetic polymorphismsKeratoconuslysyl oxidase genesuperoxide dismutase 1 geneTIMP3 genevisual system homeobox 1 genePurpose: To identify inherited or acquired mutations in the VSX1, SOD1, TIMP3 and LOX genes from the combined analysis of corneal and blood samples from patients with Keratoconus. Methods: The casuistry was consisted of samples of peripheral blood and corneal epithelium from 35 unrelated patients with Keratoconus who were submitted to corneal crosslink treatment. Also, blood and corneal epithelium samples from 89 non-keratoconic patients were used to compose the control group. Ophthalmologic evaluations included a clinical examination, topography and tomography. DNA samples were extracted from peripheral blood and from corneal epithelium in both groups and all coding regions of the VSX1, SOD1, TIMP3 and LOX genes were amplified by polymerase chain reaction, denatured and subjected to polyacrylamide gel electrophoresis. Mutational screening was performed by single-strand conformation polymorphism and direct DNA sequencing. Results: No pathogenic variant was found in all coding regions of VSX1, SOD1, TIMP3 and LOX genes, we detected only few SNPs (single-nucleotide polymorphisms). Among the polymorphisms stand out three of them, corresponding to the synonymous exchange of amino acids: exon 3 of VSX1 Ala182Ala and exon 3 of TIMP3 His83His and Ser87Ser; in patients with Keratoconus and also in control subjects. All the polymorphisms were found in samples of corneal epithelium and corresponding blood. Conclusion: There is absence of KC pathogenic related to mutations in the VSX1, SOD1, TIMP3 and LOX genes in the studied patients.Biology Department Instituto De Biociências Letras E Universidade Estadual Paulista “Júlio De Mesquita Filho” São José do Rio PretoImmunogenetics Laboratory Molecular Biology Department Faculdade De Medicina De São José Do Rio Preto (FAMERP) São José do Rio PretoOphthalmology Outpatient Clinic Hospital De Base Da Fundação Faculdade Regional De Medicina, HB-, São José do Rio PretoCentro Universitário De Rio Preto UnirpEpidemiology and Collective Health Faculdade De Medicina De São José Do Rio Preto (FAMERP) São José do Rio PretoBiology Department Instituto De Biociências Letras E Universidade Estadual Paulista “Júlio De Mesquita Filho” São José do Rio PretoUniversidade Estadual Paulista (UNESP)São José do Rio PretoHospital De Base Da Fundação Faculdade Regional De MedicinaCentro Universitário De Rio Preto UnirpLopes, Alessandro Garcia [UNESP]de Almeida Jr, Gildásio CastelloMiola, Marcos PauloTeixeira, Ronan Marques [UNESP]Pires, Francielly Camilla Bazilio LaurindoMiani, Rodolfo Andradede Mattos, Luiz CarlosBrandão, Cinara CássiaCastiglioni, Lilian [UNESP]2022-04-29T08:36:44Z2022-04-29T08:36:44Z2021-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1080/13816810.2021.1992785Ophthalmic Genetics.1744-50941381-6810http://hdl.handle.net/11449/22993810.1080/13816810.2021.19927852-s2.0-85119681084Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengOphthalmic Geneticsinfo:eu-repo/semantics/openAccess2022-04-29T08:36:44Zoai:repositorio.unesp.br:11449/229938Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T19:36:36.106801Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
title |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
spellingShingle |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus Lopes, Alessandro Garcia [UNESP] Cornea ectasia genetic polymorphisms Keratoconus lysyl oxidase gene superoxide dismutase 1 gene TIMP3 gene visual system homeobox 1 gene |
title_short |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
title_full |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
title_fullStr |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
title_full_unstemmed |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
title_sort |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus |
author |
Lopes, Alessandro Garcia [UNESP] |
author_facet |
Lopes, Alessandro Garcia [UNESP] de Almeida Jr, Gildásio Castello Miola, Marcos Paulo Teixeira, Ronan Marques [UNESP] Pires, Francielly Camilla Bazilio Laurindo Miani, Rodolfo Andrade de Mattos, Luiz Carlos Brandão, Cinara Cássia Castiglioni, Lilian [UNESP] |
author_role |
author |
author2 |
de Almeida Jr, Gildásio Castello Miola, Marcos Paulo Teixeira, Ronan Marques [UNESP] Pires, Francielly Camilla Bazilio Laurindo Miani, Rodolfo Andrade de Mattos, Luiz Carlos Brandão, Cinara Cássia Castiglioni, Lilian [UNESP] |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (UNESP) São José do Rio Preto Hospital De Base Da Fundação Faculdade Regional De Medicina Centro Universitário De Rio Preto Unirp |
dc.contributor.author.fl_str_mv |
Lopes, Alessandro Garcia [UNESP] de Almeida Jr, Gildásio Castello Miola, Marcos Paulo Teixeira, Ronan Marques [UNESP] Pires, Francielly Camilla Bazilio Laurindo Miani, Rodolfo Andrade de Mattos, Luiz Carlos Brandão, Cinara Cássia Castiglioni, Lilian [UNESP] |
dc.subject.por.fl_str_mv |
Cornea ectasia genetic polymorphisms Keratoconus lysyl oxidase gene superoxide dismutase 1 gene TIMP3 gene visual system homeobox 1 gene |
topic |
Cornea ectasia genetic polymorphisms Keratoconus lysyl oxidase gene superoxide dismutase 1 gene TIMP3 gene visual system homeobox 1 gene |
description |
Purpose: To identify inherited or acquired mutations in the VSX1, SOD1, TIMP3 and LOX genes from the combined analysis of corneal and blood samples from patients with Keratoconus. Methods: The casuistry was consisted of samples of peripheral blood and corneal epithelium from 35 unrelated patients with Keratoconus who were submitted to corneal crosslink treatment. Also, blood and corneal epithelium samples from 89 non-keratoconic patients were used to compose the control group. Ophthalmologic evaluations included a clinical examination, topography and tomography. DNA samples were extracted from peripheral blood and from corneal epithelium in both groups and all coding regions of the VSX1, SOD1, TIMP3 and LOX genes were amplified by polymerase chain reaction, denatured and subjected to polyacrylamide gel electrophoresis. Mutational screening was performed by single-strand conformation polymorphism and direct DNA sequencing. Results: No pathogenic variant was found in all coding regions of VSX1, SOD1, TIMP3 and LOX genes, we detected only few SNPs (single-nucleotide polymorphisms). Among the polymorphisms stand out three of them, corresponding to the synonymous exchange of amino acids: exon 3 of VSX1 Ala182Ala and exon 3 of TIMP3 His83His and Ser87Ser; in patients with Keratoconus and also in control subjects. All the polymorphisms were found in samples of corneal epithelium and corresponding blood. Conclusion: There is absence of KC pathogenic related to mutations in the VSX1, SOD1, TIMP3 and LOX genes in the studied patients. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 2022-04-29T08:36:44Z 2022-04-29T08:36:44Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1080/13816810.2021.1992785 Ophthalmic Genetics. 1744-5094 1381-6810 http://hdl.handle.net/11449/229938 10.1080/13816810.2021.1992785 2-s2.0-85119681084 |
url |
http://dx.doi.org/10.1080/13816810.2021.1992785 http://hdl.handle.net/11449/229938 |
identifier_str_mv |
Ophthalmic Genetics. 1744-5094 1381-6810 10.1080/13816810.2021.1992785 2-s2.0-85119681084 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Ophthalmic Genetics |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808129095475658752 |