A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here, we investigated the frequency of the R47H variant in a diverse and well-characterized multicenter neurodegenerative disease cohort.
Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders / Ayer, A.H., Wojta, K., Ramos, E.M., Dokuru, D., Chen, J.A., Karydas, A.M., Papatriantafyllou, J.D., Agiomyrgiannakis, D., Kamtsadeli, V., Tsinia, N., Sali, D., Gylys, K.H., Agosta, F., Filippi, M., Small, G.W., Bennett, D.A., Gearing, M., Juncos, J.L., Kramer, J., Lee, S.E., et al.. - In: ALZHEIMER DISEASE & ASSOCIATED DISORDERS. - ISSN 0893-0341. - 33:(2019), pp. 327-330. [10.1097/WAD.0000000000000339]
Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders
Agosta, Federica;Filippi, Massimo;
2019-01-01
Abstract
A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here, we investigated the frequency of the R47H variant in a diverse and well-characterized multicenter neurodegenerative disease cohort.| File | Dimensione | Formato | |
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