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correspondence Associations of CFHR1CFHR3 deletion and a CFH

Summary: correspondence
Associations of CFHR1­CFHR3 deletion and a CFH
snp to age-related macular degeneration are not
nature genetics | volume 42 | number 7 | july 2010 553
To the Editor:
Hughes et al.1 suggested that a common dele-
tion of the CFHR1 and CFHR3 genes (CFHR1­
3) is associated with lower risk of age related
macular degeneration (AMD) and that the
effect is independent from that of the previ-
ously described Y402H allele (rs1061170) in
the adjacent CFH gene2. Others have repli-
cated the CFHR1­3 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.
Since the CFH­CFHR1­CFHR3 genomic


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics