Copy Number Variation in Genes Related to Age-Related Macular Degeneration
Author Information
Author(s): Kubista Katharina E., Tosakulwong Nirubol, Wu Yanhong, Ryu Euijung, Roeder Jaime L., Hecker Laura A., Baratz Keith H., Brown William L., Edwards Albert O.
Primary Institution: Mayo Clinic
Hypothesis
To determine the contribution of copy number variation (CNV) in the regulation of complement activation locus to the development of age-related macular degeneration (AMD).
Conclusion
The combined deletion of CFHR3 and CFHR1 was associated with a decreased risk of developing AMD.
Supporting Evidence
- Eight unique combinations of copy number variation were observed in the 813 subjects.
- Combined deletion of CFHR3 and CFHR1 was protective against AMD.
- Other deletions were much less common and did not show a significant impact on AMD risk.
Takeaway
Scientists studied genes related to eye health and found that certain gene deletions can help protect against vision loss in older people.
Methodology
A multiplex ligation-dependent probe amplification assay was developed to quantify the number of copies of specific genes in humans, comparing subjects with and without AMD.
Limitations
Other deletions were not sufficiently common to have a statistically detectable impact on the risk of AMD.
Participant Demographics
The study included 813 self-reported Caucasian individuals, with 451 having AMD and 362 as controls.
Statistical Information
P-Value
1.35E-07
Confidence Interval
0.36–0.62
Statistical Significance
p<0.05
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