TY - JOUR
T1 - Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders
AU - Ayer, Ariane H.
AU - Wojta, Kevin
AU - Ramos, Eliana Marisa
AU - Dokuru, Deepika
AU - Chen, Jason A.
AU - Karydas, Anna M.
AU - Papatriantafyllou, John D.
AU - Agiomyrgiannakis, Dimitrios
AU - Kamtsadeli, Vasiliki
AU - Tsinia, Niki
AU - Sali, Dimitra
AU - Gylys, Karen H.
AU - Agosta, Federica
AU - Filippi, Massimo
AU - Small, Gary W.
AU - Bennett, David A.
AU - Gearing, Marla
AU - Juncos, Jorge L.
AU - Kramer, Joel
AU - Lee, Suzee E.
AU - Yokoyama, Jennifer S.
AU - Mendez, Mario F.
AU - Chui, Helena
AU - Zarow, Chris
AU - Ringman, John M.
AU - Kilic, Ulkan
AU - Babacan-Yildiz, Gülsen
AU - Levey, Allan
AU - Decarli, Charles S.
AU - Cotman, Carl W.
AU - Boxer, Adam L.
AU - Miller, Bruce L.
AU - Coppola, Giovanni
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Objective: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.Methods:We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild cognitive impairment, progressive supranuclear palsy syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects.Results:We observed a significant association between the R47H variant and AD, while no association was observed with any other neurodegenerative disease included in this study.Conclusions:Our results support the consensus that the R47H variant is significantly associated with AD. However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases.
AB - Objective: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.Methods:We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild cognitive impairment, progressive supranuclear palsy syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects.Results:We observed a significant association between the R47H variant and AD, while no association was observed with any other neurodegenerative disease included in this study.Conclusions:Our results support the consensus that the R47H variant is significantly associated with AD. However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases.
KW - Alzheimer disease
KW - amyotrophic lateral sclerosis
KW - association study
KW - corticobasal syndrome
KW - frontotemporal dementia
KW - genetics
KW - mild cognitive impairment
KW - progressive supranuclear palsy
KW - TREM2
UR - http://www.scopus.com/inward/record.url?scp=85075436033&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85075436033&partnerID=8YFLogxK
U2 - 10.1097/WAD.0000000000000339
DO - 10.1097/WAD.0000000000000339
M3 - Article
C2 - 31513029
AN - SCOPUS:85075436033
VL - 33
SP - 327
EP - 330
JO - Alzheimer Disease and Associated Disorders
JF - Alzheimer Disease and Associated Disorders
SN - 0893-0341
IS - 4
ER -