title: GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
abstract: Human perception of bitterness displays pronounced interindividual variation. This phenotypic variation is mirrored by equally pronounced genetic variation in the family of bitter taste receptor genes. To better understand the effects of common genetic variations on human bitter taste perception, we conducted a genome-wide association study on a discovery panel of 504 subjects and a validation panel of 104 subjects from the general population of São Paulo in Brazil. Correction for general taste-sensitivity allowed us to identify a SNP in the cluster of bitter taste receptors on chr12 (10.88- 11.24 Mb, build 36.1) significantly associated (best SNP: rs2708377, P = 5.31 × 10(-13), r(2) = 8.9%, β = -0.12, s.e. = 0.016) with the perceived bitterness of caffeine. This association overlaps with-but is statistically distinct from-the previously identified SNP rs10772420 influencing the perception of quinine bitterness that falls in the same bitter taste cluster. We replicated this association to quinine perception (P = 4.97 × 10(-37), r(2) = 23.2%, β = 0.25, s.e. = 0.020) and additionally found the effect of this genetic locus to be concentration specific with a strong impact on the perception of low, but no impact on the perception of high concentrations of quinine. Our study, thus, furthers our understanding of the complex genetic architecture of bitter taste perception.
authors: Department of Food-Consumer Interaction, Nestlé Research Center, Lausanne, Switzerland.
authors: Mirko
authors: M
authors: Ledda
authors: Zoltán
authors: Z
authors: Kutalik
authors: Maria C
authors: MC
authors: Souza Destito
authors: Milena M
authors: MM
authors: Souza
authors: Cintia A
authors: CA
authors: Cirillo
authors: Amabilene
authors: A
authors: Zamboni
authors: Nathalie
authors: N
authors: Martin
authors: Edgard
authors: E
authors: Morya
authors: Koichi
authors: K
authors: Sameshima
authors: Jacques S
authors: JS
authors: Beckmann
authors: Johannes
authors: J
authors: le Coutre
authors: Sven
authors: S
authors: Bergmann
authors: Ulrich K
authors: UK
authors: Genick
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002881:Chromosomes, Human, Pair 12; D003069:Coffee; D005260:Female; D056426:Genetic Loci; D014644:Genetic Variation; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011803:Quinine; D015203:Reproducibility of Results; D013649:Taste / Q000235:genetics*; D055697:Taste Perception / Q000235:genetics*; D055815:Young Adult
chemical_list: D003069:Coffee; D011803:Quinine
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