Genetic variation across the human olfactory receptor repertoire alters odor perception.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Trimmer, C; Keller, A; Murphy, NR; Snyder, LL; Willer, JR; Nagai, MH; Katsanis, N; Vosshall, LB; Matsunami, H; Mainland, JD
Published Date
- May 7, 2019
Published In
Volume / Issue
- 116 / 19
Start / End Page
- 9475 - 9480
PubMed ID
- 31040214
Pubmed Central ID
- PMC6511007
Electronic International Standard Serial Number (EISSN)
- 1091-6490
Digital Object Identifier (DOI)
- 10.1073/pnas.1804106115
Language
- eng
Conference Location
- United States