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Missense variant in TREML2 protects against Alzheimer's disease

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 CG., 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. and Cruchaga, Carlos 2014. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging 35 (6) , 1510.e19-26. 10.1016/j.neurobiolaging.2013.12.010

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Abstract

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 found near the TREML2 gene has been identified to be protective for AD. However, little is known about the functional variant underlying the latter association or its relationship with the p.R47H. Here, we report comprehensive analyses using whole-exome sequencing data, cerebrospinal fluid biomarker analyses, meta-analyses (16,254 cases and 20,052 controls) and cell-based functional studies to support the role of the TREML2 coding missense variant p.S144G (rs3747742) as a potential driver of the meta-analysis AD-associated genome-wide association studies signal. Additionally, we demonstrate that the protective role of TREML2 in AD is independent of the role of TREM2 gene as a risk factor for AD.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Systems Immunity Research Institute (SIURI)
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0197-4580
Last Modified: 18 Mar 2019 17:21
URI: http://orca.cf.ac.uk/id/eprint/75628

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