The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos brasileiros de oftalmologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000600501 |
Resumo: | ABSTRACT Purpose: To investigate the potential associations between keratoconus and catalase rs1001179, superoxide dismutase 2 rs4880, and glutathione peroxidase 1 rs1050450 gene polymorphisms in a Turkish population. Methods: The study group included 121 unrelated keratoconus patients and 94 unrelated healthy controls. Blood samples (200 ml) were collected from all patients and controls to isolate genomic DNA. Genotyping was performed to identify rs1001179, rs4880, and rs1050450 using real-time polymerase chain reaction (PCR). Genotype and allele frequencies were calculated; their associations with keratoconus risk were assayed, and the association with keratoconus risk and demographic factors was examined. Results: Glutathione peroxidase 1 rs1050450 polymorphism was present in 41% cases compared with 29% controls (OR=1.66; 95% CI=1.11-2.50; p=0.014). No association was observed between catalase rs1001179 and SOD2 rs4880 polymorphisms and keratoconus (for all, p>0.05). Conclusions: This study evaluated possible relationships between rs1050450, rs1001179, and rs4880 polymorphisms and keratoconus susceptibility. We found a possible association between glutathione peroxidase 1 rs1050450 polymorphism and an increased risk of keratoconus. However, the genotype and allele frequencies were identical in the catalase rs1001179 and superoxide dismutase 2 rs4880 polymorphisms. Further studies are needed to analyze the effect of such variations in identifying keratoconus susceptibility. |
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Arquivos brasileiros de oftalmologia (Online) |
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The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish populationKeratoconusGlutathione peroxidaseCatalaseSuperoxide dismutasePolymorphism, geneticABSTRACT Purpose: To investigate the potential associations between keratoconus and catalase rs1001179, superoxide dismutase 2 rs4880, and glutathione peroxidase 1 rs1050450 gene polymorphisms in a Turkish population. Methods: The study group included 121 unrelated keratoconus patients and 94 unrelated healthy controls. Blood samples (200 ml) were collected from all patients and controls to isolate genomic DNA. Genotyping was performed to identify rs1001179, rs4880, and rs1050450 using real-time polymerase chain reaction (PCR). Genotype and allele frequencies were calculated; their associations with keratoconus risk were assayed, and the association with keratoconus risk and demographic factors was examined. Results: Glutathione peroxidase 1 rs1050450 polymorphism was present in 41% cases compared with 29% controls (OR=1.66; 95% CI=1.11-2.50; p=0.014). No association was observed between catalase rs1001179 and SOD2 rs4880 polymorphisms and keratoconus (for all, p>0.05). Conclusions: This study evaluated possible relationships between rs1050450, rs1001179, and rs4880 polymorphisms and keratoconus susceptibility. We found a possible association between glutathione peroxidase 1 rs1050450 polymorphism and an increased risk of keratoconus. However, the genotype and allele frequencies were identical in the catalase rs1001179 and superoxide dismutase 2 rs4880 polymorphisms. Further studies are needed to analyze the effect of such variations in identifying keratoconus susceptibility.Conselho Brasileiro de Oftalmologia2019-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000600501Arquivos Brasileiros de Oftalmologia v.82 n.6 2019reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.5935/0004-2749.20190102info:eu-repo/semantics/openAccessIlhan,AbdullahAltun,SalihDurukan,IrfanYolcu,UmitErdem,Uzeyireng2019-10-21T00:00:00Zoai:scielo:S0004-27492019000600501Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2019-10-21T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false |
dc.title.none.fl_str_mv |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
title |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
spellingShingle |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population Ilhan,Abdullah Keratoconus Glutathione peroxidase Catalase Superoxide dismutase Polymorphism, genetic |
title_short |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
title_full |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
title_fullStr |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
title_full_unstemmed |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
title_sort |
The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population |
author |
Ilhan,Abdullah |
author_facet |
Ilhan,Abdullah Altun,Salih Durukan,Irfan Yolcu,Umit Erdem,Uzeyir |
author_role |
author |
author2 |
Altun,Salih Durukan,Irfan Yolcu,Umit Erdem,Uzeyir |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Ilhan,Abdullah Altun,Salih Durukan,Irfan Yolcu,Umit Erdem,Uzeyir |
dc.subject.por.fl_str_mv |
Keratoconus Glutathione peroxidase Catalase Superoxide dismutase Polymorphism, genetic |
topic |
Keratoconus Glutathione peroxidase Catalase Superoxide dismutase Polymorphism, genetic |
description |
ABSTRACT Purpose: To investigate the potential associations between keratoconus and catalase rs1001179, superoxide dismutase 2 rs4880, and glutathione peroxidase 1 rs1050450 gene polymorphisms in a Turkish population. Methods: The study group included 121 unrelated keratoconus patients and 94 unrelated healthy controls. Blood samples (200 ml) were collected from all patients and controls to isolate genomic DNA. Genotyping was performed to identify rs1001179, rs4880, and rs1050450 using real-time polymerase chain reaction (PCR). Genotype and allele frequencies were calculated; their associations with keratoconus risk were assayed, and the association with keratoconus risk and demographic factors was examined. Results: Glutathione peroxidase 1 rs1050450 polymorphism was present in 41% cases compared with 29% controls (OR=1.66; 95% CI=1.11-2.50; p=0.014). No association was observed between catalase rs1001179 and SOD2 rs4880 polymorphisms and keratoconus (for all, p>0.05). Conclusions: This study evaluated possible relationships between rs1050450, rs1001179, and rs4880 polymorphisms and keratoconus susceptibility. We found a possible association between glutathione peroxidase 1 rs1050450 polymorphism and an increased risk of keratoconus. However, the genotype and allele frequencies were identical in the catalase rs1001179 and superoxide dismutase 2 rs4880 polymorphisms. Further studies are needed to analyze the effect of such variations in identifying keratoconus susceptibility. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-11-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000600501 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000600501 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5935/0004-2749.20190102 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Conselho Brasileiro de Oftalmologia |
publisher.none.fl_str_mv |
Conselho Brasileiro de Oftalmologia |
dc.source.none.fl_str_mv |
Arquivos Brasileiros de Oftalmologia v.82 n.6 2019 reponame:Arquivos brasileiros de oftalmologia (Online) instname:Conselho Brasileiro de Oftalmologia (CBO) instacron:CBO |
instname_str |
Conselho Brasileiro de Oftalmologia (CBO) |
instacron_str |
CBO |
institution |
CBO |
reponame_str |
Arquivos brasileiros de oftalmologia (Online) |
collection |
Arquivos brasileiros de oftalmologia (Online) |
repository.name.fl_str_mv |
Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO) |
repository.mail.fl_str_mv |
aboonline@cbo.com.br||abo@cbo.com.br |
_version_ |
1754209030411124736 |