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@ARTICLE{Mantey:282329,
      author       = {Mantey, Richard and Hu, Jialu and Touhidinia, Maryam and
                      Butt, Tanzeem and Sidky, Ahmed Mokhtar and Sobhani,
                      Roohollah and Estrada, Santiago and Haendler, Kristian and
                      De Domenico, Elena and Beyer, Marc D. and Breteler, Monique
                      M. B. and Aziz, N. Ahmad},
      title        = {{T}andem {R}epeat {P}olymorphisms {A}re {A}ssociated with
                      {B}rain {S}tructure: {R}esults of {T}wo {L}arge
                      {P}opulation-based {S}tudies},
      reportid     = {DZNE-2025-01290},
      year         = {2025},
      abstract     = {Although genome-wide association studies (GWAS) have
                      uncovered many genetic variants linked to brain structure,
                      much of its heritability remains unexplained. Short tandem
                      repeats (STRs), which are rarely considered in GWAS, may
                      contribute to this “missing heritability”. Using
                      targeted deep sequencing, we systematically assessed the
                      relationship between ∼3000 polymorphic STRs and brain
                      imaging-derived phenotypes across 2958 participants of the
                      Rhineland Study. Expansion of an intronic CA repeat in
                      PRR14L was associated with larger thalamic volume
                      (standardized β $[95\%$ CI]=0.15 [0.06–0.24]), while AATG
                      repeat polymorphisms in NADK were associated with reduced
                      subcortical gray matter volume (–0.05 [–0.08 to
                      –0.01]). Both associations replicated in the UK Biobank
                      cohort (N=38879). Beyond single loci, higher polygenic
                      burden of moderate STR expansions was associated with
                      increased total brain, gray matter, supratentorial, and
                      thalamic volumes. Our findings indicate that moderate STR
                      expansions are region-specific determinants of brain
                      morphology and suggest that STR variability may have evolved
                      to enhance neuroanatomical plasticity and cognitive
                      function.},
      cin          = {AG Aziz / AG Breteler / AG Beyer / AG Reuter / AG Schultze},
      cid          = {I:(DE-2719)5000071 / I:(DE-2719)1012001 /
                      I:(DE-2719)1013035 / I:(DE-2719)1040310 /
                      I:(DE-2719)1013038},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354) /
                      TRANSIT-ND - Tandem Repeats Associated with Neurogenomic
                      Somatic Instability and Neurodegeneration (101041677) / 351
                      - Brain Function (POF4-351)},
      pid          = {G:(DE-HGF)POF4-354 / G:(EU-Grant)101041677 /
                      G:(DE-HGF)POF4-351},
      experiment   = {EXP:(DE-2719)PRECISE-20190321},
      typ          = {PUB:(DE-HGF)25},
      doi          = {10.1101/2025.11.14.25340228},
      url          = {https://pub.dzne.de/record/282329},
}