Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin
Author Information
Author(s): Kondkar Altaf A., Sultan Tahira, Azad Taif A., Khatlani Tanvir, Lobo Glenn P., Kalantan Hatem, Al-Obeidan Saleh A., Al-Muammar Abdulrahman M.
Primary Institution: King Saud University, Riyadh, Saudi Arabia
Hypothesis
To investigate the association of specific genetic polymorphisms in a Saudi cohort of keratoconus patients compared to controls.
Conclusion
Preliminary evidence suggests a gender-specific effect of the rs2371597 polymorphism in STON2, with an increased keratoconus risk associated with certain genotypes in men.
Supporting Evidence
- None of the tested polymorphisms showed an overall association with keratoconus risk.
- The rs2371597 polymorphism in STON2 did not demonstrate a significant association with keratoconus risk across different genetic models.
- In men, the C/G genotype was associated with a higher risk of keratoconus, particularly in the dominant model.
- Age and sex were identified as significant predictors of keratoconus risk.
Takeaway
This study looked at how certain genes might affect the risk of a vision problem called keratoconus, especially in men, but found that more research is needed.
Methodology
A retrospective case-control genetic association study was conducted with genotyping performed using real-time PCR.
Potential Biases
Potential referral or selection bias may not reflect the general Saudi population.
Limitations
The sample size is relatively small, and there may be selection bias as the study was conducted in a tertiary care center.
Participant Demographics
99 keratoconus patients and 193 healthy controls, all of Saudi nationality.
Statistical Information
P-Value
0.042
Confidence Interval
1.01–4.16
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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