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- W2033068651 abstract "Over 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." @default.
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- W2033068651 date "2015-08-01" @default.
- W2033068651 modified "2023-10-17" @default.
- W2033068651 title "More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk" @default.
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- W2033068651 doi "https://doi.org/10.1016/j.neurobiolaging.2015.04.012" @default.
- W2033068651 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4465085" @default.
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