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

Am J Hum Genet. 2006 Jan;78(1):103-11. doi: 10.1086/499253. Epub 2005 Nov 21.


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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcoholism / genetics*
  • Base Sequence
  • Black or African American / genetics
  • Chromosomes, Human, Pair 7 / genetics*
  • Genetic Predisposition to Disease*
  • Humans
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide / genetics
  • Protein Conformation
  • Receptors, G-Protein-Coupled / genetics*
  • Sequence Analysis, DNA


  • Receptors, G-Protein-Coupled
  • taste receptors, type 2