Article
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Nature genetics - 23 Oct 2011
Raychaudhuri Soumya, Iartchouk Oleg, Chin Kimberly, Tan Perciliz L, Tai Albert K, Ripke Stephan, Gowrisankar Sivakumar, Vemuri Soumya, Montgomery Kate, Yu Yi, Reynolds Robyn, Zack Donald J, Campochiaro Betsy, Campochiaro Peter, Katsanis Nicholas, Daly Mark J, Seddon Johanna M
Abstract excerpt
Two common variants in the gene encoding complement factor H (CFH), the Y402H substitution (rs1061170, c.1204C>T)(1-4) and the intronic rs1410996 SNP(5,6), explain 17% of age-related macular degeneration (AMD) liability. However, proof for the involvement of CFH, as opposed to a neighboring transcript, and knowledge of the potential mechanism of susceptibility alleles are lacking. Assuming that rare functional...
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