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Genotype Association of VEGF Polymorphism rs2010963 with Strabismus in a Pakistani Cohort: A Case-Control Study
Muhammad Ahmad Khalid1, Noor-Ul-Ain Amin2, Conain Nehal2
1Department of Science, Buckingham Browne and Nichols School, Cambridge, MA, USA.
Clinical Ophthalmology (Auckland, N.Z.)
|March 25, 2026
Summary
This study found that the GG genotype of VEGF polymorphism rs2010963 is significantly associated with an increased risk of strabismus in a Pakistani population. Further research in larger cohorts is recommended to confirm these genetic findings.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Strabismus is a common ocular misalignment with complex etiology.
- Vascular Endothelial Growth Factor (VEGF) plays a role in ocular development and vascularization.
- Genetic variations in VEGF may influence strabismus susceptibility.
Purpose of the Study:
- To investigate the association between VEGF gene polymorphism rs2010963 and strabismus prevalence.
- To determine if the GG genotype of rs2010963 increases strabismus risk in a Pakistani cohort.
Main Methods:
- Case-control study involving 43 strabismus patients and 170 healthy controls.
- Genotyping of VEGF polymorphism rs2010963 using Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP).
- Logistic regression analysis to assess the association between genotype and strabismus risk.
Main Results:
- The GG genotype frequency was significantly higher in strabismus patients (56%) compared to controls (29%).
- Individuals with the GG genotype had significantly higher odds of strabismus compared to the CC genotype (OR=5.76, p=0.0009).
- A non-significant trend for increased odds was observed for GG versus GC genotypes (OR=2.06, p=0.062).
Conclusions:
- VEGF polymorphism rs2010963, specifically the GG genotype, is significantly associated with strabismus in the studied Pakistani population.
- The findings suggest a potential genetic predisposition to strabismus linked to VEGF.
- Larger, age-matched cohorts are needed to validate these genetic associations.
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