Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.
Aged
Alzheimer Disease
/ genetics
Amyotrophic Lateral Sclerosis
/ genetics
Cognitive Dysfunction
/ genetics
Cohort Studies
Female
Frontotemporal Dementia
/ genetics
Genetic Predisposition to Disease
Genetic Variation
Genotype
Humans
Internationality
Male
Membrane Glycoproteins
/ genetics
Neurodegenerative Diseases
/ genetics
Receptors, Immunologic
/ genetics
Journal
Alzheimer disease and associated disorders
ISSN: 1546-4156
Titre abrégé: Alzheimer Dis Assoc Disord
Pays: United States
ID NLM: 8704771
Informations de publication
Date de publication:
Historique:
pubmed:
13
9
2019
medline:
29
7
2020
entrez:
13
9
2019
Statut:
ppublish
Résumé
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. 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. 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. 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.
Identifiants
pubmed: 31513029
doi: 10.1097/WAD.0000000000000339
pmc: PMC7050643
mid: NIHMS1535727
doi:
Substances chimiques
Membrane Glycoproteins
0
Receptors, Immunologic
0
TREM2 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
327-330Subventions
Organisme : NIA NIH HHS
ID : RC1 AG035610
Pays : United States
Organisme : NIA NIH HHS
ID : P50 AG023501
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG058233
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG000538
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG062422
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG019724
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH097268
Pays : United States
Organisme : NINDS NIH HHS
ID : UG3 NS104095
Pays : United States
Organisme : NIA NIH HHS
ID : P50 AG025688
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG015819
Pays : United States
Organisme : NIA NIH HHS
ID : U24 AG021886
Pays : United States
Organisme : NINDS NIH HHS
ID : F31 NS084556
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG017917
Pays : United States
Organisme : NINDS NIH HHS
ID : P30 NS062691
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG010161
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG032289
Pays : United States
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