title: Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.
abstract: Coffee, one of the most popular beverages in the world, contains many different physiologically active compounds with a potential impact on people's health. Despite the recent attention given to the genetic basis of its consumption, very little has been done in understanding genes influencing coffee preference among different individuals. Given its markedly bitter taste, we decided to verify if bitter receptor genes (TAS2Rs) variants affect coffee liking. In this light, 4066 people from different parts of Europe and Central Asia filled in a field questionnaire on coffee liking. They have been consequently recruited and included in the study. Eighty-eight SNPs covering the 25 TAS2R genes were selected from the available imputed ones and used to run association analysis for coffee liking. A significant association was detected with three SNP: one synonymous and two functional variants (W35S and H212R) on the TAS2R43 gene. Both variants have been shown to greatly reduce in vitro protein activity. Surprisingly the wild type allele, which corresponds to the functional form of the protein, is associated to higher liking of coffee. Since the hTAS2R43 receptor is sensible to caffeine, we verified if the detected variants produced differences in caffeine bitter perception on a subsample of people coming from the FVG cohort. We found a significant association between differences in caffeine perception and the H212R variant but not with the W35S, which suggests that the effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant. No other significant association was found with other TAS2R genes. In conclusion, the present study opens new perspectives in the understanding of coffee liking. Further studies are needed to clarify the role of the TAS2R43 gene in coffee hedonics and to identify which other genes and pathways are involved in its genetics.
authors.affiliation: Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo," Trieste, Italy; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Pirastu
authors.affiliation: Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Maarten
authors.initials: M
authors.lastname: Kooyman
authors.affiliation: Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Traglia
authors.affiliation: Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo," Trieste, Italy; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Robino
authors.affiliation: Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Sara M
authors.initials: SM
authors.lastname: Willems
authors.affiliation: Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Pistis
authors.affiliation: Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo," Trieste, Italy; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Pio
authors.initials: P
authors.lastname: d'Adamo
authors.affiliation: Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Najaf
authors.initials: N
authors.lastname: Amin
authors.affiliation: Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo," Trieste, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: d'Eustacchio
authors.affiliation: illycaffè s.p.a, Trieste, Italy.
authors.forename: Luciano
authors.initials: L
authors.lastname: Navarini
authors.affiliation: Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Sala
authors.affiliation: Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Lennart C
authors.initials: LC
authors.lastname: Karssen
authors.affiliation: Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands; Centre for Medical Systems Biology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Cornelia
authors.initials: C
authors.lastname: van Duijn
authors.affiliation: Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Toniolo
authors.affiliation: Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo," Trieste, Italy; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D003069:Coffee; D056726:Genetic Association Studies; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D013649:Taste / Q000235:genetics*; D000098706:Taste Receptors, Type 2
chemical_list: D003069:Coffee; D043562:Receptors, G-Protein-Coupled; D000098706:Taste Receptors, Type 2