Article
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Nature - 23 Jan 2014
Cruchaga Carlos, Karch Celeste M, Jin Sheng Chih, Benitez Bruno A, Cai Yefei, Guerreiro Rita, Harari Oscar, Norton Joanne, Budde John, Bertelsen Sarah, Jeng Amanda T, Cooper Breanna, Skorupa Tara, Carrell David, Levitch Denise, Hsu Simon, Choi Jiyoon, Ryten Mina, Sassi Celeste, Bras Jose, Gibbs Raphael J, Hernandez Dena G, Lupton Michelle K, Powell John, Forabosco Paola, Ridge Perry G, Corcoran Christopher D, Tschanz JoAnn T, Norton Maria C, Munger Ronald G, Schmutz Cameron, Leary Maegan, Demirci F Yesim, Bamne Mikhil N, Wang Xingbin, Lopez Oscar L, Ganguli Mary, Medway Christopher, Turton James, Lord Jenny, Braae Anne, Barber Imelda, Brown Kristelle, Pastor Pau, Lorenzo-Betancor Oswaldo, Brkanac Zoran, Scott Erick, Topol Eric, Morgan Kevin, Rogaeva Ekaterina, Singleton Andy, Hardy John, Kamboh M Ilyas, George-Hyslop Peter St, Cairns Nigel, Morris John C, Kauwe John S K, Goate Alison M
Abstract excerpt
Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with...
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