DNA Repair Gene Polymorphisms and Glaucoma Risk
Author Information
Author(s): Güven Mehmet, Ünal Mustafa, Batar Bahadir, Eroğlu Ebru, Devranoğlu Kazim, Tamçelik Nevbahar, Uçar Didar, Sarici Ahmet
Primary Institution: University of Istanbul
Hypothesis
The study aimed to determine the frequency of polymorphisms in DNA repair genes XRCC1 and XPD in Turkish patients with primary open angle glaucoma (POAG) and evaluate their association with POAG development.
Conclusion
Polymorphisms in XPD codon 751 and XRCC1 codon 399 were not associated with risk of POAG in a sample of Turkish patients.
Supporting Evidence
- The study included 144 cases with POAG and 121 healthy controls.
- No significant difference was observed in the genotype distribution between POAG patients and controls.
- Allele frequencies were not statistically different between the groups.
Takeaway
The study looked at whether certain gene changes affect the risk of developing glaucoma, but found no link between these gene changes and the disease.
Methodology
The study used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) to analyze gene polymorphisms in patients with POAG and healthy controls.
Limitations
The sample sizes of the groups were not sufficiently large to detect any true differences.
Participant Demographics
The study included 144 patients with POAG and 121 disease-free controls, with a mean age of 61.3 years for patients and 59.1 years for controls.
Statistical Information
P-Value
p=0.46 for XRCC1 and p=0.88 for XPD
Confidence Interval
95% CI:0.42-1.43 for XRCC1 and 95% CI:0.50-1.67 for XPD
Statistical Significance
p>0.05
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