• Samantha L Rosenthal, Mikhil N Bamne, Xingbin Wang, Sarah Berman, Beth E Snitz, William E Klunk, Robert A Sweet, F Yesim Demirci, Oscar L Lopez, and M Ilyas Kamboh.
• Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
• Neurobiol. Aging. 2015 Aug 1; 36 (8): 2443.e21-6.

AbstractOver 20 risk loci have been identified for late-onset Alzheimer's disease (LOAD), most of which display relatively small effect sizes. Recently, a rare missense (R47H) variant, rs75932628 in TREM2, has been shown to mediate LOAD risk substantially in Icelandic and Caucasian populations. Here, we present more evidence for the association of the R47H with LOAD risk in a Caucasian population comprising 4567 LOAD cases and controls. Our results show that carriers of the R47H variant have a significantly increased risk for LOAD (odds ratio = 7.40, p = 3.66E-06). In addition to Alzheimer's disease risk, we also examined the association of R47H with Alzheimer's disease-related phenotypes, including age-at-onset, psychosis, and amyloid deposition but found no significant association. Our results corroborate those of other studies implicating TREM2 as an LOAD risk locus and indicate the need to determine its biological role in the context of neurodegeneration.Copyright © 2015 Elsevier Inc. All rights reserved.

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