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@ARTICLE{Hong:268518,
      author       = {Hong, Eun Pyo and Ramos, Eliana Marisa and Aziz, N Ahmad
                      and Massey, Thomas H and McAllister, Branduff and Lobanov,
                      Sergey and Jones, Lesley and Holmans, Peter and Kwak, Seung
                      and Orth, Michael and Ciosi, Marc and Lomeikaite, Vilija and
                      Monckton, Darren G and Long, Jeffrey D and Lucente, Diane
                      and Wheeler, Vanessa C and Gillis, Tammy and MacDonald,
                      Marcy E and Sequeiros, Jorge and Gusella, James F and Lee,
                      Jong-Min},
      title        = {{M}odification of {H}untington's disease by short tandem
                      repeats.},
      journal      = {Brain communications},
      volume       = {6},
      number       = {2},
      issn         = {2632-1297},
      address      = {[Großbritannien]},
      publisher    = {Guarantors of Brain},
      reportid     = {DZNE-2024-00264},
      pages        = {fcae016},
      year         = {2024},
      abstract     = {Expansions of glutamine-coding CAG trinucleotide repeats
                      cause a number of neurodegenerative diseases, including
                      Huntington's disease and several of spinocerebellar ataxias.
                      In general, age-at-onset of the polyglutamine diseases is
                      inversely correlated with the size of the respective
                      inherited expanded CAG repeat. Expanded CAG repeats are also
                      somatically unstable in certain tissues, and age-at-onset of
                      Huntington's disease corrected for individual HTT CAG repeat
                      length (i.e. residual age-at-onset), is modified by repeat
                      instability-related DNA maintenance/repair genes as
                      demonstrated by recent genome-wide association studies.
                      Modification of one polyglutamine disease (e.g. Huntington's
                      disease) by the repeat length of another (e.g. ATXN3, CAG
                      expansions in which cause spinocerebellar ataxia 3) has also
                      been hypothesized. Consequently, we determined whether
                      age-at-onset in Huntington's disease is modified by the CAG
                      repeats of other polyglutamine disease genes. We found that
                      the CAG measured repeat sizes of other polyglutamine disease
                      genes that were polymorphic in Huntington's disease
                      participants but did not influence Huntington's disease
                      age-at-onset. Additional analysis focusing specifically on
                      ATXN3 in a larger sample set (n = 1388) confirmed the lack
                      of association between Huntington's disease residual
                      age-at-onset and ATXN3 CAG repeat length. Additionally,
                      neither our Huntington's disease onset modifier genome-wide
                      association studies single nucleotide polymorphism data nor
                      imputed short tandem repeat data supported the involvement
                      of other polyglutamine disease genes in modifying
                      Huntington's disease. By contrast, our genome-wide
                      association studies based on imputed short tandem repeats
                      revealed significant modification signals for other genomic
                      regions. Together, our short tandem repeat genome-wide
                      association studies show that modification of Huntington's
                      disease is associated with short tandem repeats that do not
                      involve other polyglutamine disease-causing genes, refining
                      the landscape of Huntington's disease modification and
                      highlighting the importance of rigorous data analysis,
                      especially in genetic studies testing candidate modifiers.},
      keywords     = {Huntington’s disease (Other) / Huntington’s disease
                      (Other) / Huntington’s disease (Other) / ATXN3 (Other) /
                      Huntington’s disease (Other) / genetic modification
                      (Other) / polyglutamine disease (Other) / short tandem
                      repeat (Other)},
      cin          = {AG Aziz},
      ddc          = {610},
      cid          = {I:(DE-2719)5000071},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38449714},
      pmc          = {pmc:PMC10917446},
      doi          = {10.1093/braincomms/fcae016},
      url          = {https://pub.dzne.de/record/268518},
}