Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22362865
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.
DATE PUBLISHED
2012 Jul
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2012/02/25 06:00
pubmed 2012/03/01 06:00
medline 2013/06/12 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Knaapila A Knaapila Antti A Monell Chemical Senses Center, 3500 Market Street, Philadelphia, PA 19104, USA.
Zhu G Zhu Gu G
Medland SE Medland Sarah E SE
Wysocki CJ Wysocki Charles J CJ
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
Wright MJ Wright Margaret J MJ
Reed DR Reed Danielle R DR
INVESTIGATORS
JOURNAL
VOLUME: 37
ISSUE: 6
TITLE: Chemical senses
ISOABBREVIATION: Chem Senses
YEAR: 2012
MONTH: Jul
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1464-3553
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Chem Senses
COUNTRY: England
ISSNLINKING: 0379-864X
NLMUNIQUEID: 8217190
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
R01 DC004698 NIDCD NIH HHS United States
R03 DC003509 NIDCD NIH HHS United States
P30DC0011735 NIDCD NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Androsterone pharmacology
Benzopyrans pharmacology
Child pharmacology
Female pharmacology
Genome-Wide Association Study pharmacology
Genotype pharmacology
Humans pharmacology
Male pharmacology
Odorants analysis
Polymorphism, Genetic genetics
Receptors, Odorant metabolism
Siblings metabolism
Smell physiology
Stimulation, Chemical physiology
Young Adult physiology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Benzopyrans
0 Receptors, Odorant
14170060AT galaxolide
C24W7J5D5R Androsterone
OTHER ID's
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