Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent
Nature genetics, 2010•nature.com
Hughes et al. 1 suggested that a common deletion of the CFHR1and CFHR3genes (CFHR1–
3∆) is associated with lower risk of age related macular degeneration (AMD) and that the
effect is independent from that of the previously described Y402H allele (rs1061170) in the
adjacent CFH gene2. Others have replicated the CFHR1–3∆ association3, 4, and this has
spurred further research on the function of the CFHR gene family5. In addition to the Y402H
coding variant, we and others have described a second independent CFH allele, marked by …
3∆) is associated with lower risk of age related macular degeneration (AMD) and that the
effect is independent from that of the previously described Y402H allele (rs1061170) in the
adjacent CFH gene2. Others have replicated the CFHR1–3∆ association3, 4, and this has
spurred further research on the function of the CFHR gene family5. In addition to the Y402H
coding variant, we and others have described a second independent CFH allele, marked by …
Hughes et al. 1 suggested that a common deletion of the CFHR1and CFHR3genes (CFHR1–3∆) is associated with lower risk of age related macular degeneration (AMD) and that the effect is independent from that of the previously described Y402H allele (rs1061170) in the adjacent CFH gene2. Others have replicated the CFHR1–3∆ association3, 4, and this has spurred further research on the function of the CFHR gene family5. In addition to the Y402H coding variant, we and others have described a second independent CFH allele, marked by the rs1410996 intronic SNP6, 7.
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