% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Guerreiro:139693,
      author       = {Guerreiro, Rita and Ross, Owen A and Kun-Rodrigues, Celia
                      and Hernandez, Dena G and Orme, Tatiana and Eicher, John D
                      and Shepherd, Claire E and Parkkinen, Laura and Darwent, Lee
                      and Heckman, Michael G and Scholz, Sonja W and Troncoso,
                      Juan C and Pletnikova, Olga and Ansorge, Olaf and Clarimon,
                      Jordi and Lleo, Alberto and Morenas-Rodriguez, Estrella and
                      Clark, Lorraine and Honig, Lawrence S and Marder, Karen and
                      Lemstra, Afina and Rogaeva, Ekaterina and St George-Hyslop,
                      Peter and Londos, Elisabet and Zetterberg, Henrik and
                      Barber, Imelda and Braae, Anne and Brown, Kristelle and
                      Morgan, Kevin and Troakes, Claire and Al-Sarraj, Safa and
                      Lashley, Tammaryn and Holton, Janice and Compta, Yaroslau
                      and Van Deerlin, Vivianna and Serrano, Geidy E and Beach,
                      Thomas G and Lesage, Suzanne and Galasko, Douglas and
                      Masliah, Eliezer and Santana, Isabel and Pastor, Pau and
                      Diez-Fairen, Monica and Aguilar, Miquel and Tienari, Pentti
                      J and Myllykangas, Liisa and Oinas, Minna and Revesz, Tamas
                      and Lees, Andrew and Boeve, Brad F and Petersen, Ronald C
                      and Ferman, Tanis J and Escott-Price, Valentina and
                      Graff-Radford, Neill and Cairns, Nigel J and Morris, John C
                      and Pickering-Brown, Stuart and Mann, David and Halliday,
                      Glenda M and Hardy, John and Trojanowski, John Q and
                      Dickson, Dennis W and Singleton, Andrew and Stone, David J
                      and Bras, Jose},
      title        = {{I}nvestigating the genetic architecture of dementia with
                      {L}ewy bodies: a two-stage genome-wide association study.},
      journal      = {The lancet / Neurology},
      volume       = {17},
      number       = {1},
      issn         = {1474-4422},
      address      = {London},
      publisher    = {Lancet Publ. Group},
      reportid     = {DZNE-2020-06015},
      pages        = {64-74},
      year         = {2018},
      abstract     = {Dementia with Lewy bodies is the second most common form of
                      dementia in elderly people but has been overshadowed in the
                      research field, partly because of similarities between
                      dementia with Lewy bodies, Parkinson's disease, and
                      Alzheimer's disease. So far, to our knowledge, no
                      large-scale genetic study of dementia with Lewy bodies has
                      been done. To better understand the genetic basis of
                      dementia with Lewy bodies, we have done a genome-wide
                      association study with the aim of identifying genetic risk
                      factors for this disorder.In this two-stage genome-wide
                      association study, we collected samples from white
                      participants of European ancestry who had been diagnosed
                      with dementia with Lewy bodies according to established
                      clinical or pathological criteria. In the discovery stage
                      (with the case cohort recruited from 22 centres in ten
                      countries and the controls derived from two publicly
                      available database of Genotypes and Phenotypes studies
                      [phs000404.v1.p1 and phs000982.v1.p1] in the USA), we
                      performed genotyping and exploited the recently established
                      Haplotype Reference Consortium panel as the basis for
                      imputation. Pathological samples were ascertained following
                      autopsy in each individual brain bank, whereas clinical
                      samples were collected after participant examination. There
                      was no specific timeframe for collection of samples. We did
                      association analyses in all participants with dementia with
                      Lewy bodies, and also only in participants with pathological
                      diagnosis. In the replication stage, we performed genotyping
                      of significant and suggestive results from the discovery
                      stage. Lastly, we did a meta-analysis of both stages under a
                      fixed-effects model and used logistic regression to test for
                      association in each stage.This study included 1743 patients
                      with dementia with Lewy bodies (1324 with pathological
                      diagnosis) and 4454 controls (1216 patients with dementia
                      with Lewy bodies vs 3791 controls in the discovery stage;
                      527 vs 663 in the replication stage). Results confirm
                      previously reported associations: APOE (rs429358; odds ratio
                      [OR] 2·40, $95\%$ CI 2·14-2·70; p=1·05 × 10-48),
                      SNCA (rs7681440; OR 0·73, 0·66-0·81;
                      p=6·39 × 10-10), an GBA (rs35749011; OR 2·55,
                      1·88-3·46; p=1·78 × 10-9). They also provide some
                      evidence for a novel candidate locus, namely CNTN1
                      (rs7314908; OR 1·51, 1·27-1·79; p=2·32 × 10-6);
                      further replication will be important. Additionally, we
                      estimate the heritable component of dementia with Lewy
                      bodies to be about $36\%.Despite$ the small sample size for
                      a genome-wide association study, and acknowledging the
                      potential biases from ascertaining samples from multiple
                      locations, we present the most comprehensive and well
                      powered genetic study in dementia with Lewy bodies so far.
                      These data show that common genetic variability has a role
                      in the disease.The Alzheimer's Society and the Lewy Body
                      Society.},
      keywords     = {Cohort Studies / Genome-Wide Association Study: methods /
                      Humans / Lewy Body Disease: genetics},
      cin          = {AG Heutink},
      ddc          = {610},
      cid          = {I:(DE-2719)1210002},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29263008},
      pmc          = {pmc:PMC5805394},
      doi          = {10.1016/S1474-4422(17)30400-3},
      url          = {https://pub.dzne.de/record/139693},
}