title: Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence.
abstract: A coding single-nucleotide polymorphism (cSNP), K172N, in hTAS2R16, a gene encoding a taste receptor for bitter beta -glucopyranosides, shows significant association with alcohol dependence (P = .00018). This gene is located on chromosome 7q in a region reported elsewhere to exhibit linkage with alcohol dependence. The SNP is located in the putative ligand-binding domain and is associated with an increased sensitivity to many bitter beta -glucopyranosides in the presence of the N172 allele. Individuals with the ancestral allele K172 are at increased risk of alcohol dependence, regardless of ethnicity. However, this risk allele is uncommon in European Americans (minor-allele frequency [MAF] 0.6%), whereas 45% of African Americans carry the allele (MAF 26%), which makes it a much more significant risk factor in the African American population.
authors.affiliation: Washington University School of Medicine, St. Louis, MO 63110, USA.
authors.forename: Anthony L
authors.initials: AL
authors.lastname: Hinrichs
authors.forename: Jen C
authors.initials: JC
authors.lastname: Wang
authors.forename: Bernd
authors.initials: B
authors.lastname: Bufe
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kwon
authors.forename: John
authors.initials: J
authors.lastname: Budde
authors.forename: Rebecca
authors.initials: R
authors.lastname: Allen
authors.forename: Sarah
authors.initials: S
authors.lastname: Bertelsen
authors.forename: Whitney
authors.initials: W
authors.lastname: Evans
authors.forename: Danielle
authors.initials: D
authors.lastname: Dick
authors.forename: John
authors.initials: J
authors.lastname: Rice
authors.forename: Tatiana
authors.initials: T
authors.lastname: Foroud
authors.forename: John
authors.initials: J
authors.lastname: Nurnberger
authors.forename: Jay A
authors.initials: JA
authors.lastname: Tischfield
authors.forename: Samuel
authors.initials: S
authors.lastname: Kuperman
authors.forename: Raymond
authors.initials: R
authors.lastname: Crowe
authors.forename: Victor
authors.initials: V
authors.lastname: Hesselbrock
authors.forename: Marc
authors.initials: M
authors.lastname: Schuckit
authors.forename: Laura
authors.initials: L
authors.lastname: Almasy
authors.forename: Bernice
authors.initials: B
authors.lastname: Porjesz
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Edenberg
authors.forename: Henri
authors.initials: H
authors.lastname: Begleiter
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Meyerhof
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Bierut
authors.forename: Alison M
authors.initials: AM
authors.lastname: Goate
mesh_terms: D001741:Black or African American / Q000235:genetics; D000437:Alcoholism / Q000235:genetics*; D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011487:Protein Conformation; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D017422:Sequence Analysis, DNA; D000098706:Taste Receptors, Type 2
chemical_list: D043562:Receptors, G-Protein-Coupled; D000098706:Taste Receptors, Type 2