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Comment
. 2010 Jul;42(7):553-5; author reply 555-6.
doi: 10.1038/ng0710-553.

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

Soumya Raychaudhuri, Stephan Ripke, Mingyao Li, Benjamin M Neale, Jesen Fagerness, Robyn Reynolds, Lucia Sobrin, Anand Swaroop, Gonçalo Abecasis, Johanna M Seddon, Mark J Daly
Comment

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

Soumya Raychaudhuri et al. Nat Genet. 2010 Jul.
No abstract available

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Figures

Figure 1
Figure 1
Genetics of the CFH–CFHR1–CFHR3 region. Statistical results of 20 SNP markers and a CFHR1–CFHR3 common copy number polymorphism. (a) Single marker tests. For each individual marker we plot the statistical strength of association as a function of its genomic position within the region. Violet, previously described SNP associations. (b) The seven haplotypes with frequencies >1%. H1 is presented as the reference haplotype. If genotypes for SNPs in other haplotypes are the same as in H1, then they are shaded blue; if genotypes for SNPs differ from H1, they are shaded white. For each haplotype we list the nucleotide for the CFH Y402H proxy rs10801555 and for CFH rs10737680, and also the deletion status of the CFHR1–CFHR3 region: empty circle, deleted; filled circle, not deleted. There are two other SNPs of interest: rs7542235, a SNP that tags the CFHR1–CFHR3 deletion; and rs800292, a CFH nonsynonymous (I62V) allele. To the right of each haplotype is the observed frequency in controls and affected individuals. To the far right of each haplotype is the relative ratio of the odds of disease for each haplotype relative to that of the most common haplotype, H1.
See this image and copyright information in PMC

Comment on

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