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CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related
 

Summary: CFH haplotypes without the Y402H coding variant show
strong association with susceptibility to age-related
macular degeneration
Mingyao Li1,2, Pelin Atmaca-Sonmez3, Mohammad Othman3, Kari E H Branham3, Ritu Khanna3,
Michael S Wade4, Yun Li1, Liming Liang1, Sepideh Zareparsi3,5, Anand Swaroop2,4 & Gonc¸alo R Abecasis1
In developed countries, age-related macular degeneration
is a common cause of blindness in the elderly. A common
polymorphism, encoding the sequence variation Y402H in
complement factor H (CFH), has been strongly associated with
disease susceptibility. Here, we examined 84 polymorphisms in
and around CFH in 726 affected individuals (including 544
unrelated individuals) and 268 unrelated controls. In this
sample, 20 of these polymorphisms showed stronger
association with disease susceptibility than the Y402H variant.
Further, no single polymorphism could account for the
contribution of the CFH locus to disease susceptibility. Instead,
multiple polymorphisms defined a set of four common
haplotypes (of which two were associated with disease
susceptibility and two seemed to be protective) and multiple
rare haplotypes (associated with increased susceptibility in

  

Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan
Liang, Liming - Departments of Biostatistics & Epidemiology, Harvard University
Pennsylvania, University of - Center for Clinical Epidemiology and Biostatistics

 

Collections: Biology and Medicine; Mathematics