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@ARTICLE{Imtiaz:281276,
      author       = {Imtiaz, Mohammed Aslam and Melas, Konstantinos and Tin,
                      Adrienne and Talevi, Valentina and Chen, Honglei and
                      Fornage, Myriam and Shrestha, Srishti and Gögele, Martin
                      and Emmert, David and Pattaro, Cristian and Pramstaller,
                      Peter and Förster, Franz and Horn, Katrin and Mosley,
                      Thomas H and Fuchsberger, Christian and Scholz, Markus and
                      Breteler, Monique M B and Aziz, N. Ahmad},
      title        = {{G}enome-wide association study meta-analysis uncovers
                      novel genetic variants associated with olfactory
                      dysfunction.},
      journal      = {BMC genomic data},
      volume       = {26},
      number       = {1},
      issn         = {2730-6844},
      address      = {[London]},
      publisher    = {BioMed Central},
      reportid     = {DZNE-2025-01091},
      pages        = {64},
      year         = {2025},
      abstract     = {Olfactory dysfunction is among the earliest signs of many
                      age-related neurodegenerative diseases and has been
                      associated with increased mortality in older adults;
                      however, its genetic basis remains largely unknown.
                      Therefore, here we aimed to elucidate its genetic
                      architecture through a genome-wide association study
                      meta-analysis (GWMA).This GWMA included the participants of
                      European ancestry (N = 22,730) enrolled in four different
                      large population-based studies followed by a multi-ancestry
                      GWMA including participants of African ancestry (N = 1,030).
                      Olfactory dysfunction was assessed using a 12-item smell
                      identification test.GWMA revealed a novel genome-wide
                      significant locus (tagged by single nucleotide polymorphism
                      rs11228623 at the 11q12 locus) associated with olfactory
                      dysfunction. Gene-based analysis revealed a high enrichment
                      for olfactory receptor genes in this region. Phenome-wide
                      association studies demonstrated associations between
                      genetic variants related to olfactory dysfunction and blood
                      cell counts, kidney function, skeletal muscle mass,
                      cholesterol levels and cardiovascular disease. Using
                      individual-level data, we also confirmed and quantified the
                      strength of these associations on a phenotypic level.
                      Moreover, employing two-sample Mendelian Randomization
                      analyses, we found evidence for causal associations between
                      olfactory dysfunction and these phenotypes.Our findings
                      provide novel insights into the genetic architecture of the
                      sense of smell and highlight its importance for many aspects
                      of human health. Moreover, these findings could facilitate
                      the identification and monitoring of individuals at
                      increased risk of olfactory dysfunction and associated
                      diseases.},
      keywords     = {Humans / Genome-Wide Association Study / Olfaction
                      Disorders: genetics / Polymorphism, Single Nucleotide / Male
                      / Female / Genetic Predisposition to Disease / Receptors,
                      Odorant: genetics / Middle Aged / White People: genetics /
                      Aged / White / Anthropometric (Other) / Biochemical (Other)
                      / Gene-mapping (Other) / Genome-wide association
                      meta-analysis (Other) / Odor identification test (Other) /
                      Olfactory dysfunction (Other) / PheWAS (Other) / Sense of
                      smell (Other) / Two-sample MR (Other) / Receptors, Odorant
                      (NLM Chemicals)},
      cin          = {AG Aziz / AG Breteler},
      ddc          = {610},
      cid          = {I:(DE-2719)5000071 / I:(DE-2719)1012001},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354) /
                      TRANSIT-ND - Tandem Repeats Associated with Neurogenomic
                      Somatic Instability and Neurodegeneration (101041677)},
      pid          = {G:(DE-HGF)POF4-354 / G:(EU-Grant)101041677},
      experiment   = {EXP:(DE-2719)Rhineland Study-20190321},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40963118},
      doi          = {10.1186/s12863-025-01360-z},
      url          = {https://pub.dzne.de/record/281276},
}