Article
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
PloS one - 1 Jan 2011
Sivakumaran Theru A, Igo Robert P, Kidd Jeffrey M, Itsara Andy, Kopplin Laura J, Chen Wei, Hagstrom Stephanie A, Peachey Neal S, Francis Peter J, Klein Michael L, Chew Emily Y, Ramprasad Vedam L, Tay Wan-Ting, Mitchell Paul, Seielstad Mark, Stambolian Dwight E, Edwards Albert O, Lee Kristine E, Leontiev Dmitry V, Jun Gyungah, Wang Yang, Tian Liping, Qiu Feiyou, Henning Alice K, LaFramboise Thomas, Sen Parveen, Aarthi Manoharan, George Ronnie, Raman Rajiv, Das Manmath Kumar, Vijaya Lingam, Kumaramanickavel Govindasamy, Wong Tien Y, Swaroop Anand, Abecasis Goncalo R, Klein Ronald, Klein Barbara E K, Nickerson Deborah A, Eichler Evan E, Iyengar Sudha K
Abstract excerpt
Complement factor H shows very strong association with Age-related Macular Degeneration (AMD), and recent data suggest that multiple causal variants are associated with disease. To refine the location of the disease associated variants, we characterized in detail the structural variation at CFH and its paralogs, including two copy number polymorphisms (CNP), CNP147 and CNP148, and several rare deletions and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.