Article
Missense variant in TREML2 protects against Alzheimer's disease.
Neurobiology of aging - 1 Jun 2014
Benitez Bruno A, Jin Sheng Chih, Guerreiro Rita, Graham Rob, Lord Jenny, Harold Denise, Sims Rebecca, Lambert Jean-Charles, Gibbs J Raphael, Bras Jose, Sassi Celeste, Harari Oscar, Bertelsen Sarah, Lupton Michelle K, Powell John, Bellenguez Celine, Brown Kristelle, Medway Christopher, Haddick Patrick C G, van der Brug Marcel P, Bhangale Tushar, Ortmann Ward, Behrens Tim, Mayeux Richard, Pericak-Vance Margaret A, Farrer Lindsay A, Schellenberg Gerard D, Haines Jonathan L, Turton Jim, Braae Anne, Barber Imelda, Fagan Anne M, Holtzman David M, Morris John C, Williams Julie, Kauwe John S K, Amouyel Philippe, Morgan Kevin, Singleton Andy, Hardy John, Goate Alison M, Cruchaga Carlos
Abstract excerpt
TREM and TREM-like receptors are a structurally similar protein family encoded by genes clustered on chromosome 6p21.11. Recent studies have identified a rare coding variant (p.R47H) in TREM2 that confers a high risk for Alzheimer's disease (AD). In addition, common single nucleotide polymorphisms in this genomic region are associated with cerebrospinal fluid biomarkers for AD and a common intergenic variant...
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