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@ARTICLE{OrtegaCubero:137818,
      author       = {Ortega-Cubero, Sara and Lorenzo-Betancor, Oswaldo and
                      Lorenzo, Elena and Agúndez, José A G and
                      Jiménez-Jiménez, Félix J and Ross, Owen A and Wurster,
                      Isabel and Mielke, Carina and Lin, Juei-Jueng and Coria,
                      Francisco and Clarimon, Jordi and Ezquerra, Mario and
                      Brighina, Laura and Annesi, Grazia and Alonso-Navarro,
                      Hortensia and García-Martin, Elena and Gironell, Alex and
                      Marti, Maria J and Yueh, Kuo-Chu and Wszolek, Zbigniew K and
                      Sharma, Manu and Berg, Daniela and Krüger, Rejko and
                      Pastor, Maria A and Pastor, Pau},
      title        = {{TREM}2 {R}47{H} variant and risk of essential tremor: a
                      cross-sectional international multicenter study.},
      journal      = {Parkinsonism $\&$ related disorders},
      volume       = {21},
      number       = {3},
      issn         = {1353-8020},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2020-04140},
      pages        = {306-309},
      year         = {2015},
      abstract     = {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.},
      keywords     = {Adolescent / Adult / Aged / Aged, 80 and over / Arginine:
                      genetics / Cross-Sectional Studies / DNA Mutational Analysis
                      / Essential Tremor: etiology / Essential Tremor: genetics /
                      Female / Genetic Predisposition to Disease / Genotype /
                      Germany / Histidine: genetics / Humans / International
                      Cooperation / Italy / Male / Membrane Glycoproteins:
                      genetics / Middle Aged / North America / Receptors,
                      Immunologic: genetics / Risk Factors / Spain / Taiwan /
                      Young Adult / Membrane Glycoproteins (NLM Chemicals) /
                      Receptors, Immunologic (NLM Chemicals) / TREM2 protein,
                      human (NLM Chemicals) / Histidine (NLM Chemicals) / Arginine
                      (NLM Chemicals)},
      cin          = {Biobanking Facility Tübingen / Ext UKT / Ext HIH / AG Berg
                      ; AG Berg / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1240004 / I:(DE-2719)5000058 /
                      I:(DE-2719)5000057 / I:(DE-2719)5000055 /
                      I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25585992},
      pmc          = {pmc:PMC4408541},
      doi          = {10.1016/j.parkreldis.2014.12.010},
      url          = {https://pub.dzne.de/record/137818},
}