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@ARTICLE{Lake:162933,
      author       = {Lake, Julie and Reed, Xylena and Langston, Rebekah G and
                      Nalls, Mike A and Gan-Or, Ziv and Cookson, Mark R and
                      Singleton, Andrew B and Blauwendraat, Cornelis and Leonard,
                      Hampton L},
      collaboration = {Consortium, International Parkinson's Disease Genomics},
      title        = {{C}oding and {N}oncoding {V}ariation in {LRRK}2 and
                      {P}arkinson's {D}isease {R}isk.},
      journal      = {Movement disorders},
      volume       = {37},
      number       = {1},
      issn         = {1531-8257},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2021-01585},
      pages        = {95-105},
      year         = {2022},
      note         = {(CC BY)},
      abstract     = {The leucine-rich repeat kinase 2 (LRRK2) gene harbors both
                      rare highly damaging missense variants (eg, p.G2019S) and
                      common noncoding variants (eg, rs76904798) with lower effect
                      sizes that are associated with Parkinson's disease (PD)
                      risk.This study aimed to investigate in a large
                      meta-analysis whether the LRRK2 Genome-Wide Association
                      Study (GWAS) signal represented by rs76904798 is
                      independently associated with PD risk from LRRK2 coding
                      variation and whether complex linkage disequilibrium
                      structures with p.G2019S and the 5' noncoding haplotype
                      account for the association of LRRK2 coding variants.We
                      performed a meta-analysis using imputed genotypes from
                      17,838 patients, 13,404 proxy patients, and 173,639 healthy
                      controls of European ancestry. We excluded carriers of
                      p.G2019S and/or rs76904798 to clarify the role of LRRK2
                      coding variation in mediating disease risk and excluded
                      carriers of relatively rare LRRK2 coding variants to assess
                      the independence of rs76904798. We also investigated the
                      co-inheritance of LRRK2 coding variants with p.G2019S,
                      rs76904798, and p.N2081D.LRRK2 rs76904798 remained
                      significantly associated with PD after excluding the
                      carriers of relatively rare LRRK2 coding variants. LRRK2
                      p.R1514Q and p.N2081D were frequently co-inherited with
                      rs76904798, and the allele distribution of p.S1647T
                      significantly changed among patients after removing
                      rs76904798 carriers.These data suggest that the LRRK2 coding
                      variants previously related to PD (p.N551K, p.R1398H,
                      p.M1646T, and p.N2081D) do not drive the 5' noncoding GWAS
                      signal. These data, however, do not preclude the independent
                      association of the haplotype p.N551K-p.R1398H and p.M1646T
                      with altered disease risk. © 2021 The Authors. Movement
                      Disorders published by Wiley Periodicals LLC on behalf of
                      International Parkinson Movement Disorder Society. This
                      article has been contributed to by US Government employees
                      and their work is in the public domain in the USA.},
      keywords     = {Genome-Wide Association Study / Genotype / Haplotypes:
                      genetics / Humans / Leucine-Rich Repeat Serine-Threonine
                      Protein Kinase-2: genetics / Mutation / Parkinson Disease:
                      genetics / LRRK2 (Other) / Parkinson's disease (Other) /
                      association (Other) / genetics (Other)},
      cin          = {Tübingen common / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)6000018 / I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9292230},
      pubmed       = {pmid:34542912},
      doi          = {10.1002/mds.28787},
      url          = {https://pub.dzne.de/record/162933},
}