Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide

Un kyung Kim, Eric Jorgenson, Hilary Coon, Mark Leppert, Neil Risch, Dennis Drayna

Research output: Contribution to journalArticlepeer-review

727 Scopus citations

Abstract

The ability to taste the substance phenylthiocarbamide (PTC) has been widely used for genetic and anthropological studies, but genetic studies have produced conflicting results and demonstrated complex inheritance for this trait. We have identified a small region on chromosome 7q that shows strong linkage disequilibrium between single-nucleotide polymorphism (SNP) markers and PTC taste sensitivity in unrelated subjects. This region contains a single gene that encodes a member of the TAS2R bitter taste receptor family. We identified three coding SNPs giving rise to five haplotypes in this gene worldwide. These haplotypes completely explain the bimodal distribution of PTC taste sensitivity, hus accounting for the inheritance of the classically defined taste insensitivity and for 55 to 85% of the variance in PTC sensitivity. Distinct phenotypes were associated with specific haplotypes, which demonstrates that this gene has a direct influence on PTC taste sensitivity and that sequence variants at different sites interact with each other within the encoded gene product.

Original languageEnglish
Pages (from-to)1221-1225
Number of pages5
JournalScience
Volume299
Issue number5610
DOIs
StatePublished - 21 Feb 2003

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