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000279439 1001_ $$00000-0002-2246-6843$$aFörster, Franz$$b0
000279439 245__ $$aGenome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.
000279439 260__ $$a[London]$$bSpringer Nature$$c2025
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000279439 520__ $$aSmelling 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.
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000279439 650_7 $$2NLM Chemicals$$aReceptors, Odorant
000279439 650_2 $$2MeSH$$aFemale
000279439 650_2 $$2MeSH$$aHumans
000279439 650_2 $$2MeSH$$aMale
000279439 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000279439 650_2 $$2MeSH$$aGenetic Variation
000279439 650_2 $$2MeSH$$aGenome-Wide Association Study
000279439 650_2 $$2MeSH$$aMendelian Randomization Analysis
000279439 650_2 $$2MeSH$$aOdorants: analysis
000279439 650_2 $$2MeSH$$aOlfactory Perception: genetics
000279439 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000279439 650_2 $$2MeSH$$aReceptors, Odorant: genetics
000279439 650_2 $$2MeSH$$aSex Characteristics
000279439 650_2 $$2MeSH$$aSmell: genetics
000279439 650_2 $$2MeSH$$aWhite People: genetics
000279439 693__ $$0EXP:(DE-2719)Rhineland Study-20190321$$5EXP:(DE-2719)Rhineland Study-20190321$$eRhineland Study / Bonn$$x0
000279439 7001_ $$00000-0001-8149-1072$$aEmmert, David$$b1
000279439 7001_ $$00000-0002-5307-6936$$aHorn, Katrin$$b2
000279439 7001_ $$aPott, Janne$$b3
000279439 7001_ $$aFrasnelli, Johannes$$b4
000279439 7001_ $$0P:(DE-2719)9002347$$aImtiaz, Mohammed Aslam$$b5
000279439 7001_ $$0P:(DE-2719)9001389$$aMelas, Konstantinos$$b6$$udzne
000279439 7001_ $$0P:(DE-2719)9001002$$aTalevi, Valentina$$b7$$udzne
000279439 7001_ $$aChen, Honglei$$b8
000279439 7001_ $$00000-0002-7247-282X$$aEngel, Christoph$$b9
000279439 7001_ $$aFilosi, Michele$$b10
000279439 7001_ $$00000-0003-0677-8158$$aFornage, Myriam$$b11
000279439 7001_ $$00000-0003-4785-4348$$aGögele, Martin$$b12
000279439 7001_ $$aLöffler, Markus$$b13
000279439 7001_ $$aMosley, Thomas H$$b14
000279439 7001_ $$aPattaro, Cristian$$b15
000279439 7001_ $$00000-0002-9831-8302$$aPramstaller, Peter$$b16
000279439 7001_ $$aShrestha, Srishti$$b17
000279439 7001_ $$0P:(DE-2719)2812578$$aAziz, N Ahmad$$b18
000279439 7001_ $$0P:(DE-2719)2810403$$aBreteler, Monique M B$$b19
000279439 7001_ $$aWirkner, Kerstin$$b20
000279439 7001_ $$0P:(DE-2719)9002639$$aScholz, Markus$$b21
000279439 7001_ $$00000-0002-5918-8947$$aFuchsberger, Christian$$b22
000279439 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-025-61330-y$$gVol. 16, no. 1, p. 5434$$n1$$p5434$$tNature Communications$$v16$$x2041-1723$$y2025
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