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

Hooli, B. V., Parrado, A. R., Mullin, K., Yip, W. K., Liu, T., Roehr, J. T., et al. (2014). The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology, 83(15), 1353-1358. doi:10.1212/WNL.0000000000000855.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-B2B3-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-B2B4-9
Genre: Journal Article

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 Creators:
Hooli, B. V., Author
Parrado, A. R., Author
Mullin, K., Author
Yip, W. K., Author
Liu, T., Author
Roehr, J. T., Author
Qiao, D., Author
Jessen, F., Author
Peters, O., Author
Becker, T., Author
Ramirez, A., Author
Lange, C., Author
Bertram, L.1, Author              
Tanzi, R. E., Author
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              

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 Abstract: OBJECTIVES: Recently, 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. METHODS: In 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. RESULTS: Meta-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. CONCLUSIONS: While 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.

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Language(s): eng - English
 Dates: 2014-09-032014-10-07
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1212/WNL.0000000000000855
 Degree: -

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Title: Neurology
Source Genre: Journal
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Publ. Info: American Academy of Neurology
Pages: - Volume / Issue: 83 (15) Sequence Number: - Start / End Page: 1353 - 1358 Identifier: ISSN: 1526-632X (Electronic)0028-3878(Print)