Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence

Anthony L. Hinrichs, Jen C. Wang, Bernd Bufe, Jennifer M. Kwon, John Budde, Rebecca Allen, Sarah Bertelsen, Whitney Evans, Danielle Dick, John Rice, Tatiana Foroud, John Nurnberger, Jay A. Tischfield, Samuel Kuperman, Raymond Crowe, Victor Hesselbrock, Marc Schuckit, Laura Almasy, Bernice Porjesz, Howard J. EdenbergHenri Begleiter, Wolfgang Meyerhof, Laura J. Bierut, Alison M. Goate

Research output: Contribution to journalArticlepeer-review

120 Scopus citations


A coding single-nucleotide polymorphism (cSNP), K172N, in hTAS2R16, a gene encoding a taste receptor for bitter β-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 β-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.

Original languageEnglish
Pages (from-to)103-111
Number of pages9
JournalAmerican journal of human genetics
Issue number1
StatePublished - Jan 2006


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