The impact of catalase and glutathione peroxidase-1 genetic polymorphisms on their enzyme activities among Egyptian patients with keratoconus.
J Gene Med
; 22(8): e3192, 2020 08.
Article
em En
| MEDLINE
| ID: mdl-32203639
ABSTRACT
BACKGROUND:
Elevated oxidative stress plays a significant role in pathophysiology of keratoconus (KC). Polymorphisms of the antioxidant enzymes as CAT and GPX-1 might alter their antioxidant enzyme capacities leading to increase in the oxidative damage induced KC.AIM:
To analyze the impact of CAT rs7943316 A/T and GPX-1 rs1050450 C/T single nucleotide polymorphisms (SNPs) on the risk and severity of KC among a group of Egyptian population. SUBJECT &METHODS:
CAT rs7943316 and GPX-1 rs1050450 SNPs were examined using polymerase chain reaction-restriction fragment length polymorphism in 100 control subjects and 150 KC patients [50 patients (KC stages 1&2), 50 patients (KC stage 3) and 50 patients (KC stage 4)].RESULTS:
Patients with TT genotype of CAT rs7943316 were at high risk of developing KC. T allele of GPX-1 rs1050450 was significantly associated with KC risk (P Ë0.001). The frequency of CAT TT genotype and T allele was significantly higher among severe stages of KC compared to mild and moderate stages. GPX-1 T allele frequency was significantly higher among severe stages of KC compared to mild and moderate stages. A very significant decrease in the antioxidant enzyme activities was observed in association with these SNPs. Age of the patients, CAT and GPX-1 SNPs as well as their enzyme activities were independent predictors of KC severity.CONCLUSION:
Our study suggests that CAT (rs7943316) and GPX-1 (rs1050450) SNPs act as independent predictors for different grades of KC and that these SNPs might have a role in the pathogenesis of the disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catalase
/
Polimorfismo de Nucleotídeo Único
/
Glutationa Peroxidase
/
Ceratocone
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article