ArticlePLoS biology2007
Genetic elucidation of human hyperosmia to isovaleric acid.
Article in PLoS biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 2 of them syntheses that pooled it.
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Who cites it
92 citing papers in PubMed, 2 syntheses or guidelines pooled it, 217 citations in OpenAlex.
- Microbial volatile organic compounds and olfactory receptors in wound malodor.Frontiers in cellular and infection microbiology · 2026Pooled it
- Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.Nature communications · 2025Pooled it
- Impact of ethanol on odor detection thresholds relevant to No- and Low-Alcohol (NoLo) wines: a combined sensory and computational approach in simplified static hydroalcoholic model wine.Current research in food science · 2026Article
- Human ovulatory phase-increasing odors cause positive emotions and stress-suppressive effects in males.iScience · 2025Article
- Wider Than the Sky: An Alternative to "Mapping" the World Onto the Brain.The European journal of neuroscience · 2025Article
- An odorant receptor for a key odor constituent of ambergris.Communications biology · 2025Article
- Conserved pattern-based classification of human odorant receptor multigene family.Scientific reports · 2024Article
- What Does the Human Olfactory System Do, and How Does It Do It?Annual review of psychology · 2024Review
- M2OR: a database of olfactory receptor-odorant pairs for understanding the molecular mechanisms of olfaction.Nucleic acids research · 2024Article
- Deciphering olfactory receptor binding mechanisms: a structural and dynamic perspective on olfactory receptors.Frontiers in molecular biosciences · 2024Review
- The Role of the Olfactory System in Obesity and Metabolism in Humans: A Systematic Review and Meta-Analysis.Metabolites · 2023Review
- Association among Olfactory Function, Lifestyle and BMI in Female and Male Elderly Subjects: A Cross-Sectional Study.Nutrients · 2023Article
- Comparative Analysis of Olfactory Receptor Repertoires Sheds Light on the Diet Adaptation of the Bamboo-Eating Giant Panda Based on the Chromosome-Level Genome.Animals : an open access journal from MDPI · 2023Article
- Olfactory Receptors as an Emerging Chemical Sensing Scaffold.Biochemistry · 2023Review
- Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks.Chemical senses · 2023Article
- Olfactory Sensitivity Is Associated with Body Mass Index and Polymorphism in the Voltage-Gated Potassium ChannelsNutrients · 2022Article
- From musk to body odor: Decoding olfaction through genetic variation.PLoS genetics · 2022Article
- OlfactionBase: a repository to explore odors, odorants, olfactory receptors and odorant-receptor interactions.Nucleic acids research · 2022Article
- Functional analysis of human olfactory receptors with a high basal activity using LNCaP cell line.PloS one · 2022Article
- African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations.Brain sciences · 2021Article
32 more citing papers are in PubMed but not listed here.
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7 authors at 4 institutions in 2 countries.
Funding
Abstract
The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating pseudogenes, displaying both functional and nonfunctional alleles in humans, are excellent candidates to underlie these differences in olfactory sensitivity. To explore this hypothesis, we examined the association between olfactory detection threshold phenotypes of four odorants and segregating pseudogene genotypes of 43 ORs genome-wide. A strong association signal was observed between the single nucleotide polymorphism variants in OR11H7P and sensitivity to the odorant isovaleric acid. This association was largely due to the low frequency of homozygous pseudogenized genotype in individuals with specific hyperosmia to this odorant, implying a possible functional role of OR11H7P in isovaleric acid detection. This predicted receptor-ligand functional relationship was further verified using the Xenopus oocyte expression system, whereby the intact allele of OR11H7P exhibited a response to isovaleric acid. Notably, we also uncovered another mechanism affecting general olfactory acuity that manifested as a significant inter-odorant threshold concordance, resulting in an overrepresentation of individuals who were hyperosmic to several odorants. An involvement of polymorphisms in other downstream transduction genes is one possible explanation for this observation. Thus, human hyperosmia to isovaleric acid is a complex trait, contributed to by both receptor and other mechanisms in the olfactory signaling pathway.
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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.