title: A genome-wide study on the perception of the odorants androstenone and galaxolide.
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.
authors.affiliation: Monell Chemical Senses Center, 3500 Market Street, Philadelphia, PA 19104, USA.
authors.forename: Antti
authors.initials: A
authors.lastname: Knaapila
authors.forename: Gu
authors.initials: G
authors.lastname: Zhu
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Medland
authors.forename: Charles J
authors.initials: CJ
authors.lastname: Wysocki
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
authors.forename: Margaret J
authors.initials: MJ
authors.lastname: Wright
authors.forename: Danielle R
authors.initials: DR
authors.lastname: Reed
mesh_terms: D000293:Adolescent; D000328:Adult; D000738:Androsterone / Q000494:pharmacology*; D001578:Benzopyrans / Q000494:pharmacology*; D002648:Child; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D009812:Odorants / Q000032:analysis*; D011110:Polymorphism, Genetic / Q000235:genetics; D018035:Receptors, Odorant / Q000235:genetics* / Q000378:metabolism; D035781:Siblings; D012903:Smell / Q000187:drug effects* / Q000235:genetics* / Q000502:physiology; D013268:Stimulation, Chemical; D055815:Young Adult
chemical_list: D001578:Benzopyrans; D018035:Receptors, Odorant; C033119:galaxolide; D000738:Androsterone