% 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{Brazel:144043,
      author       = {D. M. Brazel and Y. Jiang and J. M. Hughey and V. Turcot
                      and X. Zhan and J. Gong and C. Batini and J. D.
                      Weissenkampen and M. Liu and D. R. Barnes and S. Bertelsen
                      and Y.-L. Chou and A. M. Erzurumluoglu and J. D. Faul and J.
                      Haessler and A. R. Hammerschlag and C. Hsu and M. Kapoor and
                      D. Lai and N. Le and C. A. de Leeuw and A. Loukola and M.
                      Mangino and C. A. Melbourne and G. Pistis and B. Qaiser and
                      R. Rohde and Y. Shao and H. Stringham and L. Wetherill and
                      W. Zhao and A. Agrawal and L. Bierut and C. Chen and C. B.
                      Eaton and A. Goate and C. Haiman and A. Heath and W. G.
                      Iacono and N. G. Martin and T. J. Polderman and A. Reiner
                      and J. Rice and D. Schlessinger and H. S. Scholte and J. A.
                      Smith and J.-C. Tardif and H. A. Tindle and A. R. van der
                      Leij and M. Boehnke and J. Chang-Claude$^*$ and F. Cucca and
                      S. P. David and T. Foroud and J. M. M. Howson and S. L. R.
                      Kardia and C. Kooperberg and M. Laakso and G. Lettre and P.
                      Madden and M. McGue and K. North and D. Posthuma and T.
                      Spector and D. Stram and M. D. Tobin and D. R. Weir and J.
                      Kaprio and G. R. Abecasis and D. J. Liu and S. Vrieze and P.
                      Surendran and R. Young and D. R. Barnes and S. F. Nielsen
                      and A. Rasheed and M. Samuel and W. Zhao and J. Kontto and
                      M. Perola and M. Caslake and A. J. M. de Craen and S.
                      Trompet and M. Uria-Nickelsen and A. Malarstig and D. F.
                      Reily and M. Hoek and T. Vogt and J. W. Jukema and N. Sattar
                      and I. Ford and C. J. Packard and D. S. Alam and A. A. S.
                      Majumder and E. Di Angelantonio and R. Chowdhury and P.
                      Amouyel and D. Arveiler and S. Blankenberg and J. Ferrières
                      and F. Kee and K. Kuulasmaa and M. Müller-Nurasyid and G.
                      Veronesi and J. Virtamo and Epic-Cvd Consortium and P.
                      Frossard and B. G. Nordestgaard and D. Saleheen and J.
                      Danesh and A. S. Butterworth and J. M. M. Howson and A. M.
                      Erzurumluoglu and V. E. Jackson and C. A. Melbourne and T.
                      V. Varga and H. R. Warren and V. Tragante and I. Tachmazidou
                      and S. E. Harris and E. Evangelou and J. Marten and W. Zhang
                      and E. Altmaier and J. Luan and C. Langenberg and R. A.
                      Scott and H. Yaghootkar and K. Stirrups and S. Kanoni and E.
                      Marouli and F. Karpe and A. F. Dominiczak and P. Sever and
                      N. Poulter and O. Rolandsson and C. Baumbach and S. Afaq and
                      J. C. Chambers and J. S. Kooner and N. J. Wareham and F.
                      Renström and G. Hallmans and R. E. Marioni and J. Corley
                      and J. M. Starr and N. Verweij and R. A. de Boer and P. van
                      der Meer and E. Yavas and I. Vaartjes and M. L. Bots and F.
                      W. Asselbergs and H. J. Grabe and H. Völzke and M. Nauck
                      and S. Weiss and P. D. P. Pharoah and A. M. Dunning and J.
                      G. Dennis and D. J. Thompson and K. Michailidou and D. F.
                      Easton and A. C. Antoniou and J. Tyrrell and E. Mihailov and
                      N. J. Samani and K. Zhou and M. J. Neville and A. Metspalu
                      and C. N. A. Palmer and I. P. Hall and D. P. Strachan and I.
                      J. Deary and T. M. Frayling and C. Hayward and P. van der
                      Harst and E. Zeggini and Understanding Society Scientific
                      Group and P. B. Munroe and J.-H. Jansson and P. W. Franks
                      and P. Deloukas and M. J. Caulfield and L. V. Wain and M. D.
                      Tobin},
      collaboration = {C. E. Consortium and C. f. G. o. S. Behaviour},
      title        = {{E}xome {C}hip {M}eta-analysis {F}ine {M}aps {C}ausal
                      {V}ariants and {E}lucidates the {G}enetic {A}rchitecture of
                      {R}are {C}oding {V}ariants in {S}moking and
                      {A}lcohol {U}se.},
      journal      = {Biological psychiatry},
      volume       = {85},
      number       = {11},
      issn         = {0006-3223},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DKFZ-2019-01594},
      pages        = {946 - 955},
      year         = {2019},
      abstract     = {Smoking and alcohol use have been associated with common
                      genetic variants in multiple loci. Rare variants within
                      these loci hold promise in the identification of biological
                      mechanisms in substance use. Exome arrays and genotype
                      imputation can now efficiently genotype rare nonsynonymous
                      and loss of function variants. Such variants are expected to
                      have deleterious functional consequences and to contribute
                      to disease risk.We analyzed ∼250,000 rare variants from 16
                      independent studies genotyped with exome arrays and
                      augmented this dataset with imputed data from the UK
                      Biobank. Associations were tested for five phenotypes:
                      cigarettes per day, pack-years, smoking initiation, age of
                      smoking initiation, and alcoholic drinks per week. We
                      conducted stratified heritability analyses, single-variant
                      tests, and gene-based burden tests of
                      nonsynonymous/loss-of-function coding variants. We performed
                      a novel fine-mapping analysis to winnow the number of
                      putative causal variants within associated
                      loci.Meta-analytic sample sizes ranged from 152,348 to
                      433,216, depending on the phenotype. Rare coding variation
                      explained $1.1\%$ to $2.2\%$ of phenotypic variance,
                      reflecting $11\%$ to $18\%$ of the total single nucleotide
                      polymorphism heritability of these phenotypes. We identified
                      171 genome-wide associated loci across all phenotypes. Fine
                      mapping identified putative causal variants with double
                      base-pair resolution at 24 of these loci, and between three
                      and 10 variants for 65 loci. Twenty loci contained rare
                      coding variants in the $95\%$ credible intervals.Rare coding
                      variation significantly contributes to the heritability of
                      smoking and alcohol use. Fine-mapping genome-wide
                      association study loci identifies specific variants
                      contributing to the biological etiology of substance use
                      behavior.},
      cin          = {C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30679032},
      pmc          = {pmc:PMC6534468},
      doi          = {10.1016/j.biopsych.2018.11.024},
      url          = {https://inrepo02.dkfz.de/record/144043},
}