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Association between POLG and XRCC1 gene polymorphisms and keratoconus occurrence among Egyptian patients
N A Awd-Allah1, S M Ismail2, M M Salah El-Dine3
1Biochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egipto.
Background:
Keratoconus is a progressive disorder distinguished by thinning of the corneal tissue and bulging forward into a cone-shaped fashion. Yet its etiology, 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 KC 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 BER 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 analysis.
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 KC occurrence while the G allele was associated with decreased KC 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 KC, while T/A genotype and the T allele were accompanied with decreased occurrence of KC. On the other hand, no association was observed between the c.580C>T variant in the XRCC1 gene and KC 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 KC pathogenesis and might be considered as a genetic risk factors of the disease among Egyptian population.
Insights
Genetic variants in DNA repair genes XRCC1 and POLG are associated with increased risk of keratoconus (KC) in Egyptian patients. These findings suggest a role for base excision repair in KC pathogenesis.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Keratoconus (KC) is a progressive corneal disorder with unknown multifactorial etiology.
- Oxidative DNA damage from reactive oxygen species is implicated in KC.
- The DNA base excision repair (BER) pathway is a potential mechanism in KC pathogenesis.
Purpose of the Study:
- To investigate the association of variants in BER genes XRCC1 and POLG with keratoconus occurrence.
- To identify potential genetic risk factors for KC in an Egyptian cohort.
Main Methods:
- Genotyping of three variants in XRCC1 and POLG genes using PCR and restriction enzyme analysis.
- Studied association between genetic variants and KC occurrence in Egyptian patients.
Main Results:
- The XRCC1 c.1196A>G variant (A allele, A/A genotype) was significantly associated with increased KC risk.
- The POLG c.-1370T>A polymorphism (A allele, A/A genotype) was associated with increased KC occurrence.
- No association was found between the XRCC1 c.580C>T variant and KC.
Conclusions:
- The XRCC1 c.1196A>G and POLG c.-1370T>A variants may play a role in KC pathogenesis.
- These variants could be considered genetic risk factors for keratoconus in the Egyptian population.
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