Buscar en
Archivos de la Sociedad Española de Oftalmología (English Edition)
Toda la web
Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Association between POLG and XRCC1 gene polymorphisms and keratoconus occurrence...
Journal Information
Vol. 95. Issue 9.
Pages 439-446 (September 2020)
Share
Share
Download PDF
More article options
ePub
Visits
0
Vol. 95. Issue 9.
Pages 439-446 (September 2020)
Original article
DOI: 10.1016/j.oftale.2020.03.002
Association between POLG and XRCC1 gene polymorphisms and keratoconus occurrence among Egyptian patients
Asociación entre polimorfismos de los genes POLG y XRCC1 y aparición de queratocono entre pacientes egipcios
Visits
...
N.A. Awd-Allaha,
Corresponding author
noavarts@hotmail.com

Corresponding author.
, S.M. Ismailb, M.M. Salah El-Dinec, M.M. Mohammeda
a Biochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt
b Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
c Ophthalmology Department, Research Institute of Ophthalmology, Egypt
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (3)
Show moreShow less
Tables (4)
Table 1. Sequence of primers and restriction enzymes used for detection of selected SNPs.
Table 2. Represent demographic variables and potential risk factors for KC in patients and controls.
Table 3. Distribution of genotypes of the c.580C>T – XRCC1, c.1196A>G – XRCC1 and c.-1370T>A – POLG polymorphisms in patients and controls.
Table 4. Distribution of alleles of the c.580C>T – XRCC1, c.1196A>G – XRCC1 and c.-1370T>A – POLG polymorphisms in patients and controls.
Show moreShow less
Abstract
Background

Keratoconus is a progressive disorder distinguished by thinning of the corneal tissue and bulging forward into a cone-shaped fashion. Yet its aetiology, which is multifactorial, despite intensive research remains elusive. Corneal exposure a reactive oxygen species causing oxidative DNA damage has been reported to be associated with QC and therefore suggesting that DNA base excision repair mechanism might lie behind the pathogenesis of the disease.

Methods

We studied the association of three variants in two REB genes (XRCC1 and POLG) and QC occurrence in a cohort of patients from Egypt. Genotyping of the three variants was performed using PCR and restriction enzymes analyses.

Results

We observed that A allele and A/A genotype of the c.1196A>G variant in the XRCC1 gene were significantly associated with increased QC occurrence while the G allele was associated with decreased QC occurrence. Similarly, the A/A genotype of the c.-1370T>A polymorphism in the POLG gene and the A allele were associated with increased occurrence of QC, while T/A genotype and the T allele were accompanied with decreased occurrence of QC. On the other hand, no association was observed between the c.580C>T variant in the XRCC1 gene and QC occurrence among the studied group of patients.

Conclusion

Our results suggest that c.1196A>G variant of the XRCC1 and c.-1370T>A variant of the POLG gene may be involved in QC pathogenesis and might be considered as a genetic risk factors of the disease among Egyptian population.

Keywords:
Keratoconus
Base excision repair
XRCC1
POLG
Genotyping
PCR-RFLP
Resumen
Antecedentes

El queratocono (QC) es un trastorno progresivo que se distingue por el adelgazamiento del tejido corneal y la protrusión hacia adelante en forma de cono. Sin embargo, su etiología, que es multifactorial, sigue siendo esquiva a pesar de la intensa investigación. Se ha informado que la exposición corneal a especies reactivas de oxígeno que causa daño oxidativo del ADN está asociada con QC y, por lo tanto, sugiere que el mecanismo de reparación de la escisión de la base del ADN podría estar detrás de la patogénesis de la enfermedad.

Métodos

Estudiamos la asociación de tres variantes en dos genes REB (XRCC1 y POLG) y la aparición de QC en una cohorte de pacientes de Egipto. El genotipado de las tres variantes se realizó utilizando análisis de PCR y enzimas de restricción.

Resultados

Observamos que el alelo y el genotipo A/A de la variante c.1196A>G en el gen XRCC1 se asociaron significativamente con un aumento de la aparición de QC, mientras que el alelo G se asoció con una disminución de la ocurrencia de QC. Del mismo modo, el genotipo A/A del polimorfismo c.-1370TA en el gen POLG y el alelo A se asociaron con una mayor aparición de QC, mientras que el genotipo T/A y el alelo T estaban acompañados de una disminución de la ocurrencia de QC. Por otro lado, no se observó ninguna asociación entre la variante c.580C>T en el gen XRCC1 y la incidencia de QC entre el grupo de pacientes estudiado.

Conclusión

Nuestros resultados sugieren que las variantes c.1196A>G del XRCC1 y c.-1370T>A del gen POLG pueden estar involucrada en la patogénesis QC y podrían considerarse como un factor de riesgo genético de la enfermedad entre la población egipcia.

Palabras clave:
Queratocono
Reparación de escisión de base
XRCC1
POLG
Genotipado
PCR-RFLP

Article

These are the options to access the full texts of the publication Archivos de la Sociedad Española de Oftalmología (English Edition)
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Archivos de la Sociedad Española de Oftalmología (English Edition)

Comprar
Comprar acceso al artículo

Comprando el artículo el PDF del mismo podrá ser descargado

Precio 19,34 €

Comprar ahora
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
E-mail
Article options
Tools
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos

es en pt
Política de cookies Cookies policy Política de cookies
Utilizamos cookies propias y de terceros para mejorar nuestros servicios y mostrarle publicidad relacionada con sus preferencias mediante el análisis de sus hábitos de navegación. Si continua navegando, consideramos que acepta su uso. Puede cambiar la configuración u obtener más información aquí. To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here. Utilizamos cookies próprios e de terceiros para melhorar nossos serviços e mostrar publicidade relacionada às suas preferências, analisando seus hábitos de navegação. Se continuar a navegar, consideramos que aceita o seu uso. Você pode alterar a configuração ou obter mais informações aqui.