% 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”.

      author       = {M. Gentiluomo and M. Giaccherini$^*$ and X. Gào$^*$ and F.
                      Guo$^*$ and H. Stocker$^*$ and B. Schöttker$^*$ and H.
                      Brenner$^*$ and F. Canzian$^*$ and D. Campa},
      title        = {{G}enome-wide association study of mitochondrial copy
      journal      = {Human molecular genetics},
      volume       = {31},
      number       = {8},
      issn         = {0964-6906},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2021-03275},
      pages        = {1346-1355},
      year         = {2022},
      note         = {#EA:C055#LA:C055# / 2022 Apr 22;31(8):1346-1355},
      abstract     = {Mitochondrial DNA copy number (mtDNAcn) variation has been
                      associated with increased risk of several human diseases in
                      epidemiological studies. The quantification of mtDNAcn
                      performed with real-time PCR is currently considered the de
                      facto standard among several techniques. However, the
                      heterogeneity of the laboratory methods (DNA extraction,
                      storage, processing) used could give rise to results that
                      are difficult to compare and reproduce across different
                      studies. Several lines of evidence suggest that mtDNAcn is
                      influenced by nuclear and mitochondrial genetic variability,
                      however this relation is largely unexplored. The aim of this
                      work was to elucidate the genetic basis of mtDNAcn
                      variation. We performed a genome-wide association study
                      (GWAS) of mtDNAcn in 6836 subjects from the ESTHER
                      prospective cohort, and included, as replication set, the
                      summary statistics of a GWAS that used 295 150 participants
                      from the UK Biobank. We observed two novel associations with
                      mtDNAcn variation on chromosome 19 (rs117176661), and 12
                      (rs7136238) that reached statistical significance at the
                      genome-wide level. A polygenic score that we called
                      mitoscore including all known single nucleotide
                      polymorphisms explained $1.11\%$ of the variation of mtDNAcn
                      (p = 5.93 × 10-7). In conclusion, we performed a GWAS on
                      mtDNAcn, adding to the evidence of the genetic background of
                      this trait.},
      cin          = {C055 / C070 / C120 / HD01},
      ddc          = {570},
      cid          = {I:(DE-He78)C055-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34964454},
      doi          = {10.1093/hmg/ddab341},
      url          = {https://inrepo02.dkfz.de/record/178331},