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Alzheimer's disease (AD)

Triggering receptor expressed on myeloid cells 2 (TREM2)

Genetic association studies identified a TREM2 variant that could be associated with AD. Whole-genome sequencing of samples from 3,550 Icelandic patients with AD and 8,888 controls at least 85 years of age without AD identified rs75932628-T, a missense mutation in TREM2, that was significantly associated with increased AD risk (p=3.4´10-10). The association was confirmed in cohorts from the U.S., Norway, the Netherlands and Germany. In Icelandic individuals without AD between 80 and 100 years of age, cognitive decline was worse in carriers of the rs75932628-T mutation than in noncarriers (p=0.003). In a second study, sequencing TREM2 in 1,092 patients with AD and 1,107 controls identified additional TREM2 variants in the patients with AD and an association between rs75932628 and increased risk of AD (p<0.001). The association was confirmed in an additional cohort and a meta-analysis of a genomewide association study in AD. Next steps could include confirming the findings in additional patient cohorts.

SciBX 5(49); doi:10.1038/scibx.2012.1291
Published online Dec. 20, 2012

Patent and licensing status for first study unavailable

Findings from second study unpatented; licensing status not applicable

Jonsson, T. et al. N. Engl. J. Med.; published online Nov. 14, 2012;
Contact: Kari Stefansson, deCode genetics ehf, Reykjavik, Iceland

Guerreio, R. et al. N. Engl. J. Med.; published online Nov. 14, 2012;
Contact: John Hardy, UCL Institute of Neurology, London, U.K.