Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.

Autor:	Ayer AH; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Wojta K; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Ramos EM; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Dokuru D; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Chen JA; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Karydas AM; Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA., Papatriantafyllou JD; Third Age Day Care Center IASIS, Athens, Greece Memory Clinic, Medical Center of Athens, Greece., Agiomyrgiannakis D; Third Age Day Care Center IASIS, Athens, Greece Memory Clinic, Medical Center of Athens, Greece., Kamtsadeli V; Third Age Day Care Center IASIS, Athens, Greece Memory Clinic, Medical Center of Athens, Greece., Tsinia N; Third Age Day Care Center IASIS, Athens, Greece Memory Clinic, Medical Center of Athens, Greece., Sali D; Third Age Day Care Center IASIS, Athens, Greece Memory Clinic, Medical Center of Athens, Greece., Gylys KH; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Agosta F; Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy., Filippi M; Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy., Small GW; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Bennett DA; Department of Neurological Sciences and Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL., Gearing M; Department of Neurology, Department of Pathology, and Department of Laboratory Medicine, Emory University, Atlanta, GA., Juncos JL; Department of Neurology, Department of Pathology, and Department of Laboratory Medicine, Emory University, Atlanta, GA., Kramer J; Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA., Lee SE; Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA., Yokoyama JS; Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA., Mendez MF; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine., Chui H; Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles., Zarow C; Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles., Ringman JM; Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles.; Department of Neurology, University of California Los Angeles., Kilic U; Department of Medical Biology, Faculty of Medicine, University of Health Sciences., Babacan-Yildiz G; Department of Neurology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey., Levey A; Department of Neurology, Department of Pathology, and Department of Laboratory Medicine, Emory University, Atlanta, GA., DeCarli CS; Department of Neurology, School of Medicine, University of California, Davis., Cotman CW; Department of Neurology, School of Medicine, University of California, Irvine., Boxer AL; Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA., Miller BL; Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA., Coppola G; Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine.; Department of Neurology, University of California Los Angeles.
Jazyk:	angličtina
Zdroj:	Alzheimer disease and associated disorders [Alzheimer Dis Assoc Disord] 2019 Oct-Dec; Vol. 33 (4), pp. 327-330.
DOI:	10.1097/WAD.0000000000000339
Abstrakt:	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.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu