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BAX and BCL2 Gene Polymorphisms in Rhegmatogenous Retinal Detachment
Marilita M Moschos1, Irini Chatziralli, Dimitrios Brouzas
1Electrophysiology Laboratory, 1st Department of Ophthalmology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Ophthalmic Research
|September 7, 2017
Summary
Genetic variations in BAX and BCL2 may influence rhegmatogenous retinal detachment (RRD). The BAX rs4645878 AA genotype is linked to increased RRD risk in a Greek population, suggesting apoptosis involvement.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Rhegmatogenous retinal detachment (RRD) is a sight-threatening condition.
- The role of apoptosis in RRD pathogenesis is not fully understood.
- BAX and BCL2 genes are key regulators of apoptosis.
Purpose of the Study:
- To investigate the association between BAX and BCL2 gene polymorphisms and RRD.
- To explore the potential role of apoptosis in RRD development.
Main Methods:
- Case-control study with 99 RRD patients and 120 healthy controls.
- Genotyping of BAX (rs2279115) and BCL2 (rs4645878) polymorphisms.
- Statistical analysis to determine correlations between genotypes and RRD.
Main Results:
- The BAX rs4645878 AA genotype showed a significant association with RRD (p=0.003).
- Odds ratio (OR) for RRD with rs4645878 AA genotype was 6.89 (95% CI: 1.76-26.93).
- No significant association was found for BCL2 rs2279115 genotypes or alleles with RRD.
Conclusions:
- This study identifies a significant association between BAX rs4645878 polymorphism and RRD susceptibility in a Greek population.
- The findings suggest that apoptotic pathways may be involved in the pathogenesis of RRD.
- This is the first study to examine BAX and BCL2 polymorphisms in relation to RRD in this demographic.
