Purchase this article with an account.
D. M. Hornan, X. Chen, K. E. Beeson, H. Griffiths, A. J. Lotery; Copy Number Variation in CFH and Related Genes. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3454.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
In this study we examined genomic copy number variation (CNV) in complement factor H (CFH) and related (CFH-R) genes. We characterized CNV in the region and analyzed its association with age-related macular degeneration. By identifying the relationship of CNV to disease susceptibility we will begin to understand the role of gene dosage in AMD.
We used quantitative PCR on genomic DNA from a panel of AMD patients and non-AMD controls to analyze CNV at ten loci across the 500kB CFH and CFH-related region. A previously published PCR-based assay was used adjunctively to look for deletion of the CFH-R1 gene in 600 subjects and 600 controls.
We have found significant CNV in the CFH and CFH-R region in addition to the CFH-R1/CFH-R3 deletion haplotype that has previously been associated with reduced AMD susceptibility.
The CFH and CFH-R genomic region is of high complexity due to gene duplication that occurred during evolution. SNP markers are not good surrogates for CNV in such regions. The CNV in this gene region is more extensive than previously reported and has implications for AMD pathogenesis.
This PDF is available to Subscribers Only