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@ARTICLE{Frster:279439,
      author       = {Förster, Franz and Emmert, David and Horn, Katrin and
                      Pott, Janne and Frasnelli, Johannes and Imtiaz, Mohammed
                      Aslam and Melas, Konstantinos and Talevi, Valentina and
                      Chen, Honglei and Engel, Christoph and Filosi, Michele and
                      Fornage, Myriam and Gögele, Martin and Löffler, Markus and
                      Mosley, Thomas H and Pattaro, Cristian and Pramstaller,
                      Peter and Shrestha, Srishti and Aziz, N Ahmad and Breteler,
                      Monique M B and Wirkner, Kerstin and Scholz, Markus and
                      Fuchsberger, Christian},
      title        = {{G}enome-wide association meta-analysis of human olfactory
                      identification discovers sex-specific and sex-differential
                      genetic variants.},
      journal      = {Nature Communications},
      volume       = {16},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2025-00770},
      pages        = {5434},
      year         = {2025},
      abstract     = {Smelling is a human sense, expressing strong sexual
                      dimorphisms. We aim to improve the knowledge of the genetics
                      of human olfactory perception by performing an exploratory
                      genome-wide association meta-analysis of up to 21,495
                      individuals of European ancestry. By sex-stratified and
                      overall analysis of the identification of twelve odours and
                      an identification score, we discovered ten independent loci,
                      seven of them novel, with trait-wise genome-wide
                      significance (p < 5 × 10-8) involving five odours. Seven of
                      these loci, including four novel ones, are also significant
                      using a stricter study-wide significance threshold (p < 3.85
                      × 10-9). Loci were predominantly located within clusters of
                      olfactory receptors. Two loci were female-specific while one
                      was sex-differential with respective candidate genes
                      containing androgen response elements. Two-sample Mendelian
                      randomization was applied to search for causal relationships
                      between sex hormones, odour identification and
                      neurodegenerative diseases. A causal negative effect was
                      detected for Alzheimer's disease on the identification
                      score. These findings deepen our understanding of the
                      genetic basis of olfactory perception and its interaction
                      with sex, prioritizing mechanisms for further molecular
                      research.},
      keywords     = {Female / Humans / Male / Alzheimer Disease: genetics /
                      Genetic Variation / Genome-Wide Association Study /
                      Mendelian Randomization Analysis / Odorants: analysis /
                      Olfactory Perception: genetics / Polymorphism, Single
                      Nucleotide / Receptors, Odorant: genetics / Sex
                      Characteristics / Smell: genetics / White People: genetics /
                      Receptors, Odorant (NLM Chemicals)},
      cin          = {AG Breteler / AG Aziz},
      ddc          = {500},
      cid          = {I:(DE-2719)1012001 / I:(DE-2719)5000071},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      experiment   = {EXP:(DE-2719)Rhineland Study-20190321},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40593737},
      pmc          = {pmc:PMC12219263},
      doi          = {10.1038/s41467-025-61330-y},
      url          = {https://pub.dzne.de/record/279439},
}