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@ARTICLE{Yousaf:877954,
      author       = {Yousaf, Afsheen and Waltes, Regina and Haslinger, Denise
                      and Klauck, Sabine M and Duketis, Eftichia and Sachse,
                      Michael and Voran, Anette and Biscaldi, Monica and
                      Schulte-Rüther, Martin and Cichon, Sven and Nöthen, Markus
                      and Ackermann, Jörg and Koch, Ina and Freitag, Christine M
                      and Chiocchetti, Andreas G},
      title        = {{Q}uantitative genome-wide association study of six
                      phenotypic subdomains identifies novel genome-wide
                      significant variants in autism spectrum disorder.},
      journal      = {Translational Psychiatry},
      volume       = {10},
      number       = {1},
      issn         = {2158-3188},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {FZJ-2020-02533},
      pages        = {215},
      year         = {2020},
      abstract     = {Autism spectrum disorders (ASD) are highly heritable and
                      are characterized by deficits in social communication and
                      restricted and repetitive behaviors. Twin studies on
                      phenotypic subdomains suggest a differing underlying genetic
                      etiology. Studying genetic variation explaining phenotypic
                      variance will help to identify specific underlying
                      pathomechanisms. We investigated the effect of common
                      variation on ASD subdomains in two cohorts including >2500
                      individuals. Based on the Autism Diagnostic
                      Interview-Revised (ADI-R), we identified and confirmed six
                      subdomains with a SNP-based genetic heritability h2SNP =
                      0.2-0.4. The subdomains nonverbal communication (NVC),
                      social interaction (SI), and peer interaction (PI) shared
                      genetic risk factors, while the subdomains of repetitive
                      sensory-motor behavior (RB) and restricted interests (RI)
                      were genetically independent of each other. The polygenic
                      risk score (PRS) for ASD as categorical diagnosis explained
                      $2.3-3.3\%$ of the variance of SI, joint attention (JA), and
                      PI, $4.5\%$ for RI, $1.2\%$ of RB, but only $0.7\%$ of NVC.
                      We report eight genome-wide significant hits-partially
                      replicating previous findings-and 292 known and novel
                      candidate genes. The underlying biological mechanisms were
                      related to neuronal transmission and development. At the SNP
                      and gene level, all subdomains showed overlap, with the
                      exception of RB. However, no overlap was observed at the
                      functional level. In summary, the ADI-R algorithm-derived
                      subdomains related to social communication show a shared
                      genetic etiology in contrast to restricted and repetitive
                      behaviors. The ASD-specific PRS overlapped only partially,
                      suggesting an additional role of specific common variation
                      in shaping the phenotypic expression of ASD subdomains.},
      cin          = {INM-1 / INM-11},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406 / I:(DE-Juel1)INM-11-20170113},
      pnm          = {571 - Connectivity and Activity (POF3-571) / HBP SGA3 -
                      Human Brain Project Specific Grant Agreement 3 (945539) /
                      HBP SGA2 - Human Brain Project Specific Grant Agreement 2
                      (785907)},
      pid          = {G:(DE-HGF)POF3-571 / G:(EU-Grant)945539 /
                      G:(EU-Grant)785907},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32624584},
      pmc          = {pmc:PMC7335742},
      UT           = {WOS:000549816200002},
      doi          = {10.1038/s41398-020-00906-2},
      url          = {https://juser.fz-juelich.de/record/877954},
}