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@ARTICLE{Lai:162738,
      author       = {Lai, Dongbing and Alipanahi, Babak and Fontanillas, Pierre
                      and Schwantes-An, Tae-Hwi and Aasly, Jan and Alcalay, Roy N
                      and Beecham, Gary W and Berg, Daniela and Bressman, Susan
                      and Brice, Alexis and Brockmann, Kathrin and Clark, Lorraine
                      and Cookson, Mark and Das, Sayantan and Van Deerlin,
                      Vivianna and Follett, Jordan and Farrer, Matthew J and
                      Trinh, Joanne and Gasser, Thomas and Goldwurm, Stefano and
                      Gustavsson, Emil and Klein, Christine and Lang, Anthony E
                      and Langston, J William and Latourelle, Jeanne and Lynch,
                      Timothy and Marder, Karen and Marras, Connie and Martin,
                      Eden R and McLean, Cory Y and Mejia-Santana, Helen and
                      Molho, Eric and Myers, Richard H and Nuytemans, Karen and
                      Ozelius, Laurie and Payami, Haydeh and Raymond, Deborah and
                      Rogaeva, Ekaterina and Rogers, Michael P and Ross, Owen A
                      and Samii, Ali and Saunders-Pullman, Rachel and Schüle,
                      Birgitt and Schulte, Claudia and Scott, William K and
                      Tanner, Caroline and Tolosa, Eduardo and Tomkins, James E
                      and Vilas, Dolores and Trojanowski, John Q and Uitti, Ryan
                      and Vance, Jeffery M and Visanji, Naomi P and Wszolek,
                      Zbigniew K and Zabetian, Cyrus P and Mirelman, Anat and
                      Giladi, Nir and Orr Urtreger, Avi and Cannon, Paul and
                      Fiske, Brian and Foroud, Tatiana},
      collaboration = {Team, 23andMe Research},
      title        = {{G}enomewide {A}ssociation {S}tudies of {LRRK}2 {M}odifiers
                      of {P}arkinson's {D}isease.},
      journal      = {Annals of neurology},
      volume       = {90},
      number       = {1},
      issn         = {1531-8249},
      address      = {Hoboken, NJ},
      publisher    = {Wiley-Blackwell},
      reportid     = {DZNE-2021-01395},
      pages        = {76 - 88},
      year         = {2021},
      abstract     = {The aim of this study was to search for genes/variants that
                      modify the effect of LRRK2 mutations in terms of penetrance
                      and age-at-onset of Parkinson's disease.We performed the
                      first genomewide association study of penetrance and
                      age-at-onset of Parkinson's disease in LRRK2 mutation
                      carriers (776 cases and 1,103 non-cases at their last
                      evaluation). Cox proportional hazard models and linear mixed
                      models were used to identify modifiers of penetrance and
                      age-at-onset of LRRK2 mutations, respectively. We also
                      investigated whether a polygenic risk score derived from a
                      published genomewide association study of Parkinson's
                      disease was able to explain variability in penetrance and
                      age-at-onset in LRRK2 mutation carriers.A variant located in
                      the intronic region of CORO1C on chromosome 12 (rs77395454;
                      p value = 2.5E-08, beta = 1.27, SE = 0.23, risk
                      allele: C) met genomewide significance for the penetrance
                      model. Co-immunoprecipitation analyses of LRRK2 and CORO1C
                      supported an interaction between these 2 proteins. A region
                      on chromosome 3, within a previously reported linkage peak
                      for Parkinson's disease susceptibility, showed suggestive
                      associations in both models (penetrance top variant: p
                      value = 1.1E-07; age-at-onset top variant: p
                      value = 9.3E-07). A polygenic risk score derived from
                      publicly available Parkinson's disease summary statistics
                      was a significant predictor of penetrance, but not of
                      age-at-onset.This study suggests that variants within or
                      near CORO1C may modify the penetrance of LRRK2 mutations. In
                      addition, common Parkinson's disease associated variants
                      collectively increase the penetrance of LRRK2 mutations. ANN
                      NEUROL 2021;90:82-94.},
      keywords     = {Aged / Female / Genetic Predisposition to Disease /
                      Genome-Wide Association Study / Genotype / Humans /
                      Leucine-Rich Repeat Serine-Threonine Protein Kinase-2:
                      genetics / Male / Middle Aged / Mutation / Parkinson
                      Disease: genetics / Penetrance / Leucine-Rich Repeat
                      Serine-Threonine Protein Kinase-2 (NLM Chemicals)},
      cin          = {AG Gasser / AG Berg},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000055},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33938021},
      pmc          = {pmc:PMC8252519},
      doi          = {10.1002/ana.26094},
      url          = {https://pub.dzne.de/record/162738},
}