Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 116, Issue 19, Pages 9475-9480Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1804106115
Keywords
olfaction; genetic variation; human genome; odor intensity; ancestry
Categories
Funding
- National Institutes of Health [R03 DC011373, R01 DC013339, T32 DC000014, F32 DC014202, DC005782, DC012095, DC014423]
- Sao Paulo Research Foundation [2017/00726-2]
- National Institute on Deafness and Other Communication Disorders Core Grant [P30 DC011735]
- Clinical and Translational Science Award from the National Center for Advancing Translational Sciences [UL1 TR000043]
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [17/00726-2] Funding Source: FAPESP
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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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