ArticleProceedings of the National Academy of Sciences of the United States of America2019
Genetic variation across the human olfactory receptor repertoire alters odor perception.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 1 of them a synthesis that pooled it.
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Who cites it
96 citing papers in PubMed, 1 synthesis or guideline pooled it, 205 citations in OpenAlex.
- Microbial volatile organic compounds and olfactory receptors in wound malodor.Frontiers in cellular and infection microbiology · 2026Pooled it
- Quantifying reference alignment bias in functional genomics analyses.Cell reports methods · 2026Article
- Theoretical study for investigating three experimental dose-response curves of rosy odorants on human olfactory receptor OR2A25 via molecular docking calculations and statistical physics modeling.Journal of computer-aided molecular design · 2026Article
- Exploring the origin of off-flavor compounds in bacterial-type shuidouchi using molecular sensory science techniques.Food chemistry: X · 2026Article
- Wakeful targeted memory reactivation during short rest periods modulates early motor learning.NPJ science of learning · 2026Article
- Decoding odor responses: universal patterns and individual signatures in psychophysiology using nonlinear models.Chemical senses · 2026Article
- The Emerging Role of Olfactory Receptors: From Genomics to Precision Medicine.Molecular diagnosis & therapy · 2026Review
- Presence-gated VOC sensing for urban search and rescue applications.Scientific reports · 2026Article
- Human pairs show collective benefit in olfactory perception despite individual differences and verbal limits.iScience · 2026Article
- What makes a scent trigger a memory? A cognitive decomposition of odor-evoked retrieval.iScience · 2026Article
- Extra-nasal odorant receptors: molecular mechanisms and therapeutic implications.Frontiers in physiology · 2026Review
- Genetic manipulation technologies for precise cellular control: a comparative review of five approaches.Frontiers in bioengineering and biotechnology · 2026Review
- Physiopathology of nasal and ecnomotopic olfactory receptors: focus on molecular pathways and potential pharmacological modulation.Frontiers in pharmacology · 2026Review
- Olfactory Decline in Elderly at High Altitudes: A Narrative Review.International journal of general medicine · 2026Review
- Wider Than the Sky: An Alternative to "Mapping" the World Onto the Brain.The European journal of neuroscience · 2025Article
- A whole-genome scan for evidence of positive and balancing selection in aye-ayes (Daubentonia madagascariensis) utilizing a well-fit evolutionary baseline model.G3 (Bethesda, Md.) · 2025Article
- Convergent reduction of olfactory genes and olfactory bulb size in mammalian species at altitude.Current biology : CB · 2025Article
- Organoid models for chemosensing cell studies.American journal of physiology. Cell physiology · 2025Review
- A quantitative comparison of the deleteriousness of missense and nonsense mutations using the structurally resolved human protein interactome.Protein science : a publication of the Protein Society · 2025Article
- An odorant receptor for a key odor constituent of ambergris.Communications biology · 2025Article
36 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
Humans use a family of more than 400 olfactory receptors (ORs) to detect odors, but there is currently no model that can predict olfactory perception from receptor activity patterns. Genetic variation in human ORs is abundant and alters receptor function, allowing us to examine the relationship between receptor function and perception. We sequenced the OR repertoire in 332 individuals and examined how genetic variation affected 276 olfactory phenotypes, including the perceived intensity and pleasantness of 68 odorants at two concentrations, detection thresholds of three odorants, and general olfactory acuity. Genetic variation in a single OR was frequently associated with changes in odorant perception, and we validated 10 cases in which in vitro OR function correlated with in vivo odorant perception using a functional assay. In 8 of these 10 cases, reduced receptor function was associated with reduced intensity perception. In addition, we used participant genotypes to quantify genetic ancestry and found that, in combination with single OR genotype, age, and gender, we can explain between 10% and 20% of the perceptual variation in 15 olfactory phenotypes, highlighting the importance of single OR genotype, ancestry, and demographic factors in the variation of olfactory perception.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.