• Neurology · Oct 2014

    Meta Analysis

    The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk.

    • Basavaraj V Hooli, Antonio R Parrado, Kristina Mullin, Wai-Ki Yip, Tian Liu, Johannes T Roehr, Dandi Qiao, Frank Jessen, Oliver Peters, Tim Becker, Alfredo Ramirez, Christoph Lange, Lars Bertram, and Rudolph E Tanzi.
    • From the MassGeneral Institute for Neurodegenerative Diseases (B.V.H., A.R.P., K.M., R.E.T.), Department of Neurology, Massachusetts General Hospital, Boston; Department of Biostatistics (W.-K.Y., D.Q., C.L.), Harvard School of Public Health, Boston, MA; Department of Vertebrate Genomics (T.L., J.T.R., L.B.), Max Planck Institute for Molecular Genetics, Berlin; Department of Psychiatry and Psychotherapy (F.J., A.R.), Institute for Medical Biometry, Informatics and Epidemiology (T.B.), and Institute of Human Genetics (A.R.), University of Bonn; German Center for Neurodegenerative Diseases (DZNE) (F.J., T.B.), Bonn; and Department of Psychiatry (O.P.), Charité University Medicine, Berlin, Germany.
    • Neurology. 2014 Oct 7;83(15):1353-8.

    ObjectivesRecently, 2 independent studies reported that a rare missense variant, rs75932628 (R47H), in exon 2 of the gene encoding the "triggering receptor expressed on myeloid cells 2" (TREM2) significantly increases the risk of Alzheimer disease (AD) with an effect size comparable to that of the APOE ε4 allele.MethodsIn this study, we attempted to replicate the association between rs75932628 and AD risk by directly genotyping rs75932628 in 2 independent Caucasian family cohorts consisting of 927 families (with 1,777 affected and 1,235 unaffected) and in 2 Caucasian case-control cohorts composed of 1,314 cases and 1,609 controls. In addition, we imputed genotypes in 3 independent Caucasian case-control cohorts containing 1,906 cases and 1,503 controls.ResultsMeta-analysis of the 2 family-based and the 5 case-control cohorts yielded a p value of 0.0029, while the overall summary estimate (using case-control data only) resulted in an odds ratio of 1.67 (95% confidence interval 0.95-2.92) for the association between the TREM2 R47H and increased AD risk.ConclusionsWhile our results serve to confirm the association between R47H and risk of AD, the observed effect on risk was substantially smaller than that previously reported.© 2014 American Academy of Neurology.

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