Home > Publications Database > Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants. > print

001     279439
005     20250720001548.0
024 7 _ |a 10.1038/s41467-025-61330-y
|2 doi
024 7 _ |a pmid:40593737
|2 pmid
024 7 _ |a pmc:PMC12219263
|2 pmc
024 7 _ |a altmetric:179285658
|2 altmetric
037 _ _ |a DZNE-2025-00770
041 _ _ |a English
082 _ _ |a 500
100 1 _ |a Förster, Franz
|0 0000-0002-2246-6843
|b 0
245 _ _ |a Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.
260 _ _ |a [London]
|c 2025
|b Springer Nature
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1752563990_3116
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a 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.
536 _ _ |a 354 - Disease Prevention and Healthy Aging (POF4-354)
|0 G:(DE-HGF)POF4-354
|c POF4-354
|f POF IV
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a Receptors, Odorant
|2 NLM Chemicals
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Alzheimer Disease: genetics
|2 MeSH
650 _ 2 |a Genetic Variation
|2 MeSH
650 _ 2 |a Genome-Wide Association Study
|2 MeSH
650 _ 2 |a Mendelian Randomization Analysis
|2 MeSH
650 _ 2 |a Odorants: analysis
|2 MeSH
650 _ 2 |a Olfactory Perception: genetics
|2 MeSH
650 _ 2 |a Polymorphism, Single Nucleotide
|2 MeSH
650 _ 2 |a Receptors, Odorant: genetics
|2 MeSH
650 _ 2 |a Sex Characteristics
|2 MeSH
650 _ 2 |a Smell: genetics
|2 MeSH
650 _ 2 |a White People: genetics
|2 MeSH
693 _ _ |0 EXP:(DE-2719)Rhineland Study-20190321
|5 EXP:(DE-2719)Rhineland Study-20190321
|e Rhineland Study / Bonn
|x 0
700 1 _ |a Emmert, David
|0 0000-0001-8149-1072
|b 1
700 1 _ |a Horn, Katrin
|0 0000-0002-5307-6936
|b 2
700 1 _ |a Pott, Janne
|b 3
700 1 _ |a Frasnelli, Johannes
|b 4
700 1 _ |a Imtiaz, Mohammed Aslam
|0 P:(DE-2719)9002347
|b 5
700 1 _ |a Melas, Konstantinos
|0 P:(DE-2719)9001389
|b 6
|u dzne
700 1 _ |a Talevi, Valentina
|0 P:(DE-2719)9001002
|b 7
|u dzne
700 1 _ |a Chen, Honglei
|b 8
700 1 _ |a Engel, Christoph
|0 0000-0002-7247-282X
|b 9
700 1 _ |a Filosi, Michele
|b 10
700 1 _ |a Fornage, Myriam
|0 0000-0003-0677-8158
|b 11
700 1 _ |a Gögele, Martin
|0 0000-0003-4785-4348
|b 12
700 1 _ |a Löffler, Markus
|b 13
700 1 _ |a Mosley, Thomas H
|b 14
700 1 _ |a Pattaro, Cristian
|b 15
700 1 _ |a Pramstaller, Peter
|0 0000-0002-9831-8302
|b 16
700 1 _ |a Shrestha, Srishti
|b 17
700 1 _ |a Aziz, N Ahmad
|0 P:(DE-2719)2812578
|b 18
700 1 _ |a Breteler, Monique M B
|0 P:(DE-2719)2810403
|b 19
700 1 _ |a Wirkner, Kerstin
|b 20
700 1 _ |a Scholz, Markus
|0 P:(DE-2719)9002639
|b 21
700 1 _ |a Fuchsberger, Christian
|0 0000-0002-5918-8947
|b 22
773 _ _ |a 10.1038/s41467-025-61330-y
|g Vol. 16, no. 1, p. 5434
|0 PERI:(DE-600)2553671-0
|n 1
|p 5434
|t Nature Communications
|v 16
|y 2025
|x 2041-1723
856 4 _ |u https://pub.dzne.de/record/279439/files/DZNE-2025-00770%20SUP.zip
856 4 _ |y OpenAccess
|u https://pub.dzne.de/record/279439/files/DZNE-2025-00770.pdf
856 4 _ |y OpenAccess
|x pdfa
|u https://pub.dzne.de/record/279439/files/DZNE-2025-00770.pdf?subformat=pdfa
909 C O |o oai:pub.dzne.de:279439
|p openaire
|p open_access
|p VDB
|p driver
|p dnbdelivery
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 5
|6 P:(DE-2719)9002347
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 6
|6 P:(DE-2719)9001389
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 7
|6 P:(DE-2719)9001002
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 18
|6 P:(DE-2719)2812578
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 19
|6 P:(DE-2719)2810403
913 1 _ |a DE-HGF
|b Gesundheit
|l Neurodegenerative Diseases
|1 G:(DE-HGF)POF4-350
|0 G:(DE-HGF)POF4-354
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-300
|4 G:(DE-HGF)POF
|v Disease Prevention and Healthy Aging
|x 0
914 1 _ |y 2025
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0160
|2 StatID
|b Essential Science Indicators
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1190
|2 StatID
|b Biological Abstracts
|d 2025-01-02
915 _ _ |a OpenAccess
|0 StatID:(DE-HGF)0510
|2 StatID
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1040
|2 StatID
|b Zoological Record
|d 2025-01-02
915 _ _ |a IF >= 15
|0 StatID:(DE-HGF)9915
|2 StatID
|b NAT COMMUN : 2022
|d 2025-01-02
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b NAT COMMUN : 2022
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0501
|2 StatID
|b DOAJ Seal
|d 2024-01-30T07:48:07Z
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0500
|2 StatID
|b DOAJ
|d 2024-01-30T07:48:07Z
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
|d 2025-01-02
915 _ _ |a Fees
|0 StatID:(DE-HGF)0700
|2 StatID
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
|d 2025-01-02
915 _ _ |a Creative Commons Attribution CC BY 4.0
|0 LIC:(DE-HGF)CCBY4
|2 HGFVOC
915 _ _ |a WoS
|0 StatID:(DE-HGF)0113
|2 StatID
|b Science Citation Index Expanded
|d 2025-01-02
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b DOAJ : Peer review
|d 2024-01-30T07:48:07Z
915 _ _ |a Article Processing Charges
|0 StatID:(DE-HGF)0561
|2 StatID
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1060
|2 StatID
|b Current Contents - Agriculture, Biology and Environmental Sciences
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1150
|2 StatID
|b Current Contents - Physical, Chemical and Earth Sciences
|d 2025-01-02
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
|d 2025-01-02
920 1 _ |0 I:(DE-2719)1012001
|k AG Breteler
|l Population Health Sciences
|x 0
920 1 _ |0 I:(DE-2719)5000071
|k AG Aziz
|l Population & Clinical Neuroepidemiology
|x 1
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a UNRESTRICTED
980 _ _ |a I:(DE-2719)1012001
980 _ _ |a I:(DE-2719)5000071
980 1 _ |a FullTexts

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21