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Functional Variant in a Bitter-Taste Receptor ( hTAS2R16) Influences Risk of Alcohol Dependence
Journal article   Open access   Peer reviewed

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, …
American journal of human genetics, Vol.78(1), pp.103-111
2006
DOI: 10.1086/499253
PMCID: PMC1380207
PMID: 16385453
url
https://doi.org/10.1086/499253View
Published (Version of record) Open Access

Abstract

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.

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