A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
Abbas M Solouki1, Virginie J M Verhoeven, Cornelia M van Duijn
1Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Nature Genetics
|September 14, 2010
Summary
A genome-wide study identified a gene variant on chromosome 15q14 strongly associated with refractive errors, a common cause of vision impairment worldwide. This finding advances understanding of genetic factors influencing eye conditions like myopia.
Area of Science:
- Genetics
- Ophthalmology
- Population Science
Background:
- Refractive errors are prevalent global ocular disorders, a leading cause of preventable blindness.
- Despite high heritability, identifying specific genes contributing to refractive errors has been difficult.
Purpose of the Study:
- To conduct a genome-wide association study (GWAS) to identify genetic loci associated with refractive errors.
- To replicate initial findings in independent cohorts to confirm the association's robustness.
Main Methods:
- A large-scale GWAS was performed on 5,328 individuals from a Dutch population.
- Replication analysis involved four independent cohorts, totaling 10,280 additional individuals.
- Statistical analysis identified significant genetic associations, including odds ratios for myopia versus hyperopia.
Main Results:
- A significant association was discovered at chromosome 15q14 (rs634990, P = 2.21 × 10⁻¹⁴).
- The minor allele at this locus increased the odds of myopia compared to hyperopia.
- The associated region is near retinal genes GJD2 and ACTC1, potentially containing regulatory elements.
Conclusions:
- Common genetic variants at 15q14 significantly influence susceptibility to refractive errors in the general population.
- This discovery provides a new target for understanding the genetic basis of refractive errors and potential interventions.
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