DNA Repair Gene Variants and Glaucoma Risk in Pakistan
Author Information
Author(s): Yousaf Sajeela, Khan Muhammad Imran, Micheal Shazia, Akhtar Farah, Ali Syeda Hafiza Benish, Riaz Moeen, Ali Mahmood, Lall Pramila, Waheed Nadia Khalida, den Hollander Anneke I., Ahmed Asifa, Qamar Raheel
Primary Institution: COMSATS Institute of Information Technology, Islamabad, Pakistan
Hypothesis
The study investigates the association of polymorphisms in the XRCC1 and XPD DNA repair genes with primary open-angle glaucoma (POAG) and primary closed-angle glaucoma (PCAG) in the Pakistani population.
Conclusion
Defects in the DNA repair genes XRCC1 and XPD may be associated with the progression of primary open-angle glaucoma in male patients of Pakistani origin.
Supporting Evidence
- XRCC1 rs25487 was significantly associated with male POAG patients.
- XPD rs13181 was associated with male POAG patients for both dominant and recessive models.
- Combined genotypes of both genes revealed a significant association with male POAG patients.
Takeaway
This study found that certain gene changes might make men in Pakistan more likely to develop a type of eye disease called glaucoma.
Methodology
A prospective case-control study using polymerase chain reaction-restriction fragment length polymorphism analysis on 160 POAG patients, 163 PCAG patients, and 193 unaffected controls.
Potential Biases
Potential bias due to the ethnic homogeneity of the sample population.
Limitations
The study is limited to a specific ethnic group and may not be generalizable to other populations.
Participant Demographics
The study involved Punjabi patients, with 160 POAG (80 males, 80 females) and 163 PCAG (81 males, 82 females) cases, along with 193 unaffected controls (101 males, 92 females).
Statistical Information
P-Value
p<0.001
Confidence Interval
95% CI=1.44–4.85
Statistical Significance
p<0.05
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