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A genome-wide association study of optic disc parameters
Wishal D Ramdas1, Leonieke M E van Koolwijk, M Kamran Ikram
1Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Plos Genetics
|June 16, 2010
Summary
This study identified genetic variants influencing optic disc area and vertical cup-disc ratio (VCDR) through genome-wide association analysis. These findings shed light on the genetic basis of common eye disorders like glaucoma.
Area of Science:
- Ophthalmology
- Genetics
- Ophthalmic disorders
Background:
- The optic nerve head is crucial in ophthalmic conditions like myopia and open-angle glaucoma.
- Optic disc area and vertical cup-disc ratio (VCDR) are key parameters, highly heritable but genetically under-explored.
Purpose of the Study:
- To identify genetic variants associated with optic disc area and VCDR using a genome-wide association (GWA) meta-analysis.
- To investigate the genetic underpinnings of these heritable traits.
Main Methods:
- Performed a meta-analysis of GWA data from 7,360 individuals (Rotterdam Study I & II).
- Replicated findings in independent Dutch cohorts (N=3,612) and the TwinsUK cohort (N=843).
- Utilized meta-analysis including replication cohorts to confirm and discover additional loci.
Main Results:
- Identified four genome-wide significant loci for optic disc area and VCDR, including associations with CDC7, ATOH7, CDKN2B, and SIX1 genes.
- Confirmed these loci and discovered additional loci for optic disc area and VCDR after meta-analysis with replication cohorts.
- ATOH7 showed association with VCDR independent of optic disc area; three loci showed marginal association with open-angle glaucoma.
Conclusions:
- The identified genetic loci provide new insights into the heritability of optic disc area and VCDR.
- Overlapping protein pathways suggest a common genetic origin for optic disc area and VCDR.
- These findings contribute to understanding the genetic basis of common ophthalmic disorders.
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