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000137818 0247_ $$2doi$$a10.1016/j.parkreldis.2014.12.010
000137818 0247_ $$2pmid$$apmid:25585992
000137818 0247_ $$2pmc$$apmc:PMC4408541
000137818 0247_ $$2ISSN$$a1353-8020
000137818 0247_ $$2ISSN$$a1873-5126
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000137818 037__ $$aDZNE-2020-04140
000137818 041__ $$aEnglish
000137818 082__ $$a610
000137818 1001_ $$aOrtega-Cubero, Sara$$b0
000137818 245__ $$aTREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
000137818 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2015
000137818 264_1 $$2Crossref$$3print$$bElsevier BV$$c2015-03-01
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000137818 520__ $$aEssential 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.
000137818 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000137818 542__ $$2Crossref$$i2015-03-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
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000137818 650_7 $$2NLM Chemicals$$aMembrane Glycoproteins
000137818 650_7 $$2NLM Chemicals$$aReceptors, Immunologic
000137818 650_7 $$2NLM Chemicals$$aTREM2 protein, human
000137818 650_7 $$04QD397987E$$2NLM Chemicals$$aHistidine
000137818 650_7 $$094ZLA3W45F$$2NLM Chemicals$$aArginine
000137818 650_2 $$2MeSH$$aAdolescent
000137818 650_2 $$2MeSH$$aAdult
000137818 650_2 $$2MeSH$$aAged
000137818 650_2 $$2MeSH$$aAged, 80 and over
000137818 650_2 $$2MeSH$$aArginine: genetics
000137818 650_2 $$2MeSH$$aCross-Sectional Studies
000137818 650_2 $$2MeSH$$aDNA Mutational Analysis
000137818 650_2 $$2MeSH$$aEssential Tremor: etiology
000137818 650_2 $$2MeSH$$aEssential Tremor: genetics
000137818 650_2 $$2MeSH$$aFemale
000137818 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000137818 650_2 $$2MeSH$$aGenotype
000137818 650_2 $$2MeSH$$aGermany
000137818 650_2 $$2MeSH$$aHistidine: genetics
000137818 650_2 $$2MeSH$$aHumans
000137818 650_2 $$2MeSH$$aInternational Cooperation
000137818 650_2 $$2MeSH$$aItaly
000137818 650_2 $$2MeSH$$aMale
000137818 650_2 $$2MeSH$$aMembrane Glycoproteins: genetics
000137818 650_2 $$2MeSH$$aMiddle Aged
000137818 650_2 $$2MeSH$$aNorth America
000137818 650_2 $$2MeSH$$aReceptors, Immunologic: genetics
000137818 650_2 $$2MeSH$$aRisk Factors
000137818 650_2 $$2MeSH$$aSpain
000137818 650_2 $$2MeSH$$aTaiwan
000137818 650_2 $$2MeSH$$aYoung Adult
000137818 7001_ $$aLorenzo-Betancor, Oswaldo$$b1
000137818 7001_ $$aLorenzo, Elena$$b2
000137818 7001_ $$aAgúndez, José A G$$b3
000137818 7001_ $$aJiménez-Jiménez, Félix J$$b4
000137818 7001_ $$aRoss, Owen A$$b5
000137818 7001_ $$0P:(DE-2719)2812736$$aWurster, Isabel$$b6$$udzne
000137818 7001_ $$0P:(DE-2719)9000213$$aMielke, Carina$$b7$$udzne
000137818 7001_ $$aLin, Juei-Jueng$$b8
000137818 7001_ $$aCoria, Francisco$$b9
000137818 7001_ $$aClarimon, Jordi$$b10
000137818 7001_ $$aEzquerra, Mario$$b11
000137818 7001_ $$aBrighina, Laura$$b12
000137818 7001_ $$aAnnesi, Grazia$$b13
000137818 7001_ $$aAlonso-Navarro, Hortensia$$b14
000137818 7001_ $$aGarcía-Martin, Elena$$b15
000137818 7001_ $$aGironell, Alex$$b16
000137818 7001_ $$aMarti, Maria J$$b17
000137818 7001_ $$aYueh, Kuo-Chu$$b18
000137818 7001_ $$aWszolek, Zbigniew K$$b19
000137818 7001_ $$0P:(DE-2719)9000296$$aSharma, Manu$$b20$$udzne
000137818 7001_ $$0P:(DE-2719)2000059$$aBerg, Daniela$$b21$$udzne
000137818 7001_ $$0P:(DE-2719)2811170$$aKrüger, Rejko$$b22$$udzne
000137818 7001_ $$aPastor, Maria A$$b23
000137818 7001_ $$0P:(DE-HGF)0$$aPastor, Pau$$b24$$eCorresponding author
000137818 77318 $$2Crossref$$3journal-article$$a10.1016/j.parkreldis.2014.12.010$$b : Elsevier BV, 2015-03-01$$n3$$p306-309$$tParkinsonism & Related Disorders$$v21$$x1353-8020$$y2015
000137818 773__ $$0PERI:(DE-600)2027635-7$$a10.1016/j.parkreldis.2014.12.010$$gVol. 21, no. 3, p. 306 - 309$$n3$$p306-309$$q21:3<306 - 309$$tParkinsonism & related disorders$$v21$$x1353-8020$$y2015
000137818 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408541
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