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024 7 _ |a 10.1186/s12863-025-01360-z
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037 _ _ |a DZNE-2025-01091
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Imtiaz, Mohammed Aslam
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245 _ _ |a Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction.
260 _ _ |a [London]
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520 _ _ |a 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.
536 _ _ |a 354 - Disease Prevention and Healthy Aging (POF4-354)
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536 _ _ |a TRANSIT-ND - Tandem Repeats Associated with Neurogenomic Somatic Instability and Neurodegeneration (101041677)
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650 _ 7 |a Anthropometric
|2 Other
650 _ 7 |a Biochemical
|2 Other
650 _ 7 |a Gene-mapping
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650 _ 7 |a Genome-wide association meta-analysis
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650 _ 7 |a Odor identification test
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650 _ 7 |a Olfactory dysfunction
|2 Other
650 _ 7 |a PheWAS
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650 _ 7 |a Sense of smell
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650 _ 7 |a Two-sample MR
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650 _ 7 |a Receptors, Odorant
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Genome-Wide Association Study
|2 MeSH
650 _ 2 |a Olfaction Disorders: genetics
|2 MeSH
650 _ 2 |a Polymorphism, Single Nucleotide
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease
|2 MeSH
650 _ 2 |a Receptors, Odorant: genetics
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a White People: genetics
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a White
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693 _ _ |0 EXP:(DE-2719)Rhineland Study-20190321
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700 1 _ |a Melas, Konstantinos
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700 1 _ |a Tin, Adrienne
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700 1 _ |a Talevi, Valentina
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700 1 _ |a Chen, Honglei
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700 1 _ |a Fornage, Myriam
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700 1 _ |a Shrestha, Srishti
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700 1 _ |a Gögele, Martin
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700 1 _ |a Emmert, David
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700 1 _ |a Pattaro, Cristian
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700 1 _ |a Pramstaller, Peter
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700 1 _ |a Förster, Franz
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700 1 _ |a Horn, Katrin
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700 1 _ |a Mosley, Thomas H
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700 1 _ |a Fuchsberger, Christian
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700 1 _ |a Scholz, Markus
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700 1 _ |a Breteler, Monique M B
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700 1 _ |a Aziz, N. Ahmad
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773 _ _ |a 10.1186/s12863-025-01360-z
|g Vol. 26, no. 1, p. 64
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