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000281276 1001_ $$0P:(DE-2719)9002347$$aImtiaz, Mohammed Aslam$$b0$$eFirst author
000281276 245__ $$aGenome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction.
000281276 260__ $$a[London]$$bBioMed Central$$c2025
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000281276 520__ $$aOlfactory dysfunction is among the earliest signs of many age-related neurodegenerative diseases and has been associated with increased mortality in older adults; however, its genetic basis remains largely unknown. Therefore, here we aimed to elucidate its genetic architecture through a genome-wide association study meta-analysis (GWMA).This GWMA included the participants of European ancestry (N = 22,730) enrolled in four different large population-based studies followed by a multi-ancestry GWMA including participants of African ancestry (N = 1,030). Olfactory dysfunction was assessed using a 12-item smell identification test.GWMA revealed a novel genome-wide significant locus (tagged by single nucleotide polymorphism rs11228623 at the 11q12 locus) associated with olfactory dysfunction. Gene-based analysis revealed a high enrichment for olfactory receptor genes in this region. Phenome-wide association studies demonstrated associations between genetic variants related to olfactory dysfunction and blood cell counts, kidney function, skeletal muscle mass, cholesterol levels and cardiovascular disease. Using individual-level data, we also confirmed and quantified the strength of these associations on a phenotypic level. Moreover, employing two-sample Mendelian Randomization analyses, we found evidence for causal associations between olfactory dysfunction and these phenotypes.Our findings provide novel insights into the genetic architecture of the sense of smell and highlight its importance for many aspects of human health. Moreover, these findings could facilitate the identification and monitoring of individuals at increased risk of olfactory dysfunction and associated diseases.
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000281276 536__ $$0G:(EU-Grant)101041677$$aTRANSIT-ND - Tandem Repeats Associated with Neurogenomic Somatic Instability and Neurodegeneration (101041677)$$c101041677$$fERC-2021-STG$$x1
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000281276 650_7 $$2Other$$aAnthropometric
000281276 650_7 $$2Other$$aBiochemical
000281276 650_7 $$2Other$$aGene-mapping
000281276 650_7 $$2Other$$aGenome-wide association meta-analysis
000281276 650_7 $$2Other$$aOdor identification test
000281276 650_7 $$2Other$$aOlfactory dysfunction
000281276 650_7 $$2Other$$aPheWAS
000281276 650_7 $$2Other$$aSense of smell
000281276 650_7 $$2Other$$aTwo-sample MR
000281276 650_7 $$2NLM Chemicals$$aReceptors, Odorant
000281276 650_2 $$2MeSH$$aHumans
000281276 650_2 $$2MeSH$$aGenome-Wide Association Study
000281276 650_2 $$2MeSH$$aOlfaction Disorders: genetics
000281276 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000281276 650_2 $$2MeSH$$aMale
000281276 650_2 $$2MeSH$$aFemale
000281276 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000281276 650_2 $$2MeSH$$aReceptors, Odorant: genetics
000281276 650_2 $$2MeSH$$aMiddle Aged
000281276 650_2 $$2MeSH$$aWhite People: genetics
000281276 650_2 $$2MeSH$$aAged
000281276 650_2 $$2MeSH$$aWhite
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000281276 7001_ $$0P:(DE-2719)9001389$$aMelas, Konstantinos$$b1
000281276 7001_ $$0P:(DE-HGF)0$$aTin, Adrienne$$b2
000281276 7001_ $$0P:(DE-2719)9001002$$aTalevi, Valentina$$b3
000281276 7001_ $$0P:(DE-HGF)0$$aChen, Honglei$$b4
000281276 7001_ $$0P:(DE-HGF)0$$aFornage, Myriam$$b5
000281276 7001_ $$0P:(DE-HGF)0$$aShrestha, Srishti$$b6
000281276 7001_ $$0P:(DE-HGF)0$$aGögele, Martin$$b7
000281276 7001_ $$0P:(DE-HGF)0$$aEmmert, David$$b8
000281276 7001_ $$0P:(DE-HGF)0$$aPattaro, Cristian$$b9
000281276 7001_ $$0P:(DE-HGF)0$$aPramstaller, Peter$$b10
000281276 7001_ $$0P:(DE-HGF)0$$aFörster, Franz$$b11
000281276 7001_ $$0P:(DE-HGF)0$$aHorn, Katrin$$b12
000281276 7001_ $$0P:(DE-HGF)0$$aMosley, Thomas H$$b13
000281276 7001_ $$0P:(DE-HGF)0$$aFuchsberger, Christian$$b14
000281276 7001_ $$0P:(DE-2719)9002639$$aScholz, Markus$$b15
000281276 7001_ $$0P:(DE-2719)2810403$$aBreteler, Monique M B$$b16
000281276 7001_ $$0P:(DE-2719)2812578$$aAziz, N. Ahmad$$b17$$eLast author
000281276 773__ $$0PERI:(DE-600)3058779-7$$a10.1186/s12863-025-01360-z$$gVol. 26, no. 1, p. 64$$n1$$p64$$tBMC genomic data$$v26$$x2730-6844$$y2025
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