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@ARTICLE{Imtiaz:271700,
      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 and Aziz, N. Ahmad},
      title        = {{G}enome-{W}ide {A}ssociation {S}tudy {M}eta-{A}nalysis
                      {U}ncovers {N}ovel {G}enetic {V}ariants {A}ssociated with
                      {O}lfactory {D}ysfunction.},
      reportid     = {DZNE-2024-01055},
      year         = {2024},
      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.To
                      identify the genetic loci associated with olfactory
                      dysfunction in the general population.This genome-wide
                      association study meta-analysis (GWMA) included 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).
                      The data analysis was performed from March 2023 through June
                      2024.Genome-wide single nucleotide polymorphisms.Olfactory
                      dysfunction was the outcome and assessed using a 12-item
                      smell identification test.GWMA revealed a novel genome-wide
                      significant locus (tagged by rs11228623 at 11q12) 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.These findings
                      provide novel insights into the genetic architecture of the
                      sense of smell and highlight its importance for many aspects
                      of human health.What is the genetic basis of olfactory
                      dysfunction, and is it causally related to adverse health
                      outcomes?This genome-wide association study meta-analysis
                      (GWMA) of 22,730 European and 1,030 African participants
                      identified a novel genomic locus, enriched for olfactory
                      receptor genes, robustly associated with olfactory
                      dysfunction. Two-sample Mendelian Randomization analyses
                      provided evidence for causal associations of olfactory
                      dysfunction with biochemical, anthropometric and
                      cardiovascular health outcomes.These findings provide new
                      insights into the genetic architecture of olfaction and
                      implicate olfactory dysfunction as a causal risk factor for
                      many aspects of human health.},
      cin          = {AG Aziz / AG Breteler},
      cid          = {I:(DE-2719)5000071 / I:(DE-2719)1012001},
      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)25},
      pubmed       = {pmid:39148842},
      pmc          = {pmc:PMC11326328},
      doi          = {10.1101/2024.08.09.24311665},
      url          = {https://pub.dzne.de/record/271700},
}