Home > Publications Database > TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study. > print

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024 7 _ |a 10.1016/j.parkreldis.2014.12.010
|2 doi
024 7 _ |a pmid:25585992
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024 7 _ |a pmc:PMC4408541
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024 7 _ |a 1353-8020
|2 ISSN
024 7 _ |a 1873-5126
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024 7 _ |a altmetric:3069883
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037 _ _ |a DZNE-2020-04140
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Ortega-Cubero, Sara
|b 0
245 _ _ |a TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
260 _ _ |a Amsterdam [u.a.]
|c 2015
|b Elsevier Science
264 _ 1 |3 print
|2 Crossref
|b Elsevier BV
|c 2015-03-01
336 7 _ |a article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a Essential tremor (ET) is the most frequent movement disorder in adults. Its pathophysiology is not clearly understood, however there is growing evidence showing common etiologic factors with other neurodegenerative disorders such as Alzheimer's and Parkinson's diseases (AD, PD). Recently, a rare p.R47H substitution (rs75932628) in the TREM2 protein (triggering receptor expressed on myeloid cells 2; OMIM: *605086) has been proposed as a risk factor for AD, PD and amyotrophic lateral sclerosis (ALS). The objective of the study was to determine whether TREM2 p.R47H allele is also a risk factor for developing ET.This was a cross-sectional multicenter international study. An initial case-control cohort from Spain (n = 456 ET, n = 2715 controls) was genotyped. In a replication phase, a case-control series (n = 897 ET, n = 1449 controls) from different populations (Italy, Germany, North-America and Taiwan) was studied. Owed to the rarity of the variant, published results on p.R47H allele frequency from 14777 healthy controls from European, North American or Chinese descent were additionally considered. The main outcome measure was p.R47H (rs75932628) allelic frequency.There was a significant association between TREM2 p.R47H variant and ET in the Spanish cohort (odds ratio [OR], 5.97; 95% CI, 1.203-29.626; p = 0.042), but it was not replicated in other populations.These results argue in favor of population-specific differences in the allelic distribution and suggest that p.R47H (rs75932628) variant may contribute to the susceptibility of ET in Spanish population. However, taking into account the very low frequency of p.R47H, further confirmatory analyses of larger ET series are needed.
536 _ _ |a 345 - Population Studies and Genetics (POF3-345)
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542 _ _ |i 2015-03-01
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650 _ 7 |a Membrane Glycoproteins
|2 NLM Chemicals
650 _ 7 |a Receptors, Immunologic
|2 NLM Chemicals
650 _ 7 |a TREM2 protein, human
|2 NLM Chemicals
650 _ 7 |a Histidine
|0 4QD397987E
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650 _ 7 |a Arginine
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650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Aged, 80 and over
|2 MeSH
650 _ 2 |a Arginine: genetics
|2 MeSH
650 _ 2 |a Cross-Sectional Studies
|2 MeSH
650 _ 2 |a DNA Mutational Analysis
|2 MeSH
650 _ 2 |a Essential Tremor: etiology
|2 MeSH
650 _ 2 |a Essential Tremor: genetics
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease
|2 MeSH
650 _ 2 |a Genotype
|2 MeSH
650 _ 2 |a Germany
|2 MeSH
650 _ 2 |a Histidine: genetics
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a International Cooperation
|2 MeSH
650 _ 2 |a Italy
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Membrane Glycoproteins: genetics
|2 MeSH
650 _ 2 |a Middle Aged
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650 _ 2 |a North America
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650 _ 2 |a Receptors, Immunologic: genetics
|2 MeSH
650 _ 2 |a Risk Factors
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650 _ 2 |a Spain
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650 _ 2 |a Taiwan
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650 _ 2 |a Young Adult
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700 1 _ |a Lorenzo-Betancor, Oswaldo
|b 1
700 1 _ |a Lorenzo, Elena
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700 1 _ |a Agúndez, José A G
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700 1 _ |a Jiménez-Jiménez, Félix J
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700 1 _ |a Ross, Owen A
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700 1 _ |a Wurster, Isabel
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700 1 _ |a Mielke, Carina
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700 1 _ |a Lin, Juei-Jueng
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700 1 _ |a Coria, Francisco
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700 1 _ |a Clarimon, Jordi
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700 1 _ |a Ezquerra, Mario
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700 1 _ |a Brighina, Laura
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700 1 _ |a Annesi, Grazia
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700 1 _ |a Alonso-Navarro, Hortensia
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700 1 _ |a García-Martin, Elena
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700 1 _ |a Gironell, Alex
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700 1 _ |a Marti, Maria J
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700 1 _ |a Yueh, Kuo-Chu
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700 1 _ |a Wszolek, Zbigniew K
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700 1 _ |a Sharma, Manu
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700 1 _ |a Berg, Daniela
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700 1 _ |a Krüger, Rejko
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700 1 _ |a Pastor, Maria A
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700 1 _ |a Pastor, Pau
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773 1 8 |a 10.1016/j.parkreldis.2014.12.010
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|t Parkinsonism & Related Disorders
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773 _ _ |a 10.1016/j.parkreldis.2014.12.010
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LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21