Abstract
Twin pairs and their siblings rated the intensity of the odorants amyl acetate, androstenone, eugenol, Galaxolide, mercaptans, and rose (N = 1573). Heritability was established for ratings of androstenone (h (2) = 0.30) and Galaxolide (h(2) = 0.34) but not for the other odorants. Genome-wide association analysis using 2.3 million single nucleotide polymorphisms indicated that the most significant association was between androstenone and a region without known olfactory receptor genes (rs10966900, P = 1.2 × 10(-7)). A previously reported association between the olfactory receptor OR7D4 and the androstenone was not detected until we specifically typed this gene (P = 1.1 × 10(-4)). We also tested these 2 associations in a second independent sample of subjects and replicated the results either fully (OR7D4, P = 0.00002) or partially (rs10966900, P = 0.010; N = 266). These findings suggest that 1) the perceived intensity of some but not all odorants is a heritable trait, 2) use of a current genome-wide marker panel did not detect a known olfactory genotype-phenotype association, and 3) person-to-person differences in androstenone perception are influenced by OR7D4 genotype and perhaps by variants of other genes.
Highlights
Some individuals with an otherwise normal sense of smell are unable to detect the odor of androstenone (5a-androst-16en-3-one) at the concentrations tested, and those who are able to perceive it describe the odor in different ways: as sweaty, urinous, musky, sweet, or even perfume-like (Griffiths and Patterson 1970; Gilbert and Wysocki 1987)
The majority of participants provided valid detection and intensity responses for all 6 odors in the National Geographic Smell Survey (NGSS) (985 of 992 [99.3%]) or University of Helsinki Smell Survey (UHSS) (581 of 594 [97.8%]) and were able to smell most odorants, with very few potential general anosmic individuals
Androstenone was not detected by 17.6% (NGSS) and 10.8% (UHSS) of participants, Galaxolide by 11.7% (Figure 1), and mercaptans by 19.5%
Summary
Some individuals with an otherwise normal sense of smell are unable to detect the odor of androstenone (5a-androst-16en-3-one) at the concentrations tested, and those who are able to perceive it describe the odor in different ways: as sweaty, urinous, musky, sweet, or even perfume-like (Griffiths and Patterson 1970; Gilbert and Wysocki 1987). Galaxolide, a musky odorant, cannot be detected by some individuals (Wysocki and Gilbert 1989; Baydar et al 1993). Galaxolide differs from androstenone in that most people who can smell it find it pleasant (Wysocki and Gilbert 1989). The ability to detect androstenone is a heritable trait; that is, genetic variation accounts for a significant proportion of person-to-person differences (Wysocki and Beauchamp 1984; Gross-Isseroff et al 1992; Pause et al 1998; Keller et al 2007; Knaapila, Tuorila, Silventoinen, Wright, Kyvik, Cherkas, et al 2008). The relative contribution of genes and environment to olfactory thresholds must be evaluated for each odorant
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