Fig. 2
GWAS SNPs and eQTLs in the TAS2R-containing locus on chromosome 12. (a) GWAS results for bitterness ratings of Ace-K for genotyped (circles) and imputed (crosses) SNPs within the TAS2R-containing locus (chr12:10,965,517 − 11,349,415, pink bars) determined using PLINK clump function. Genomic coordinates are based on hg19. The demonstrated region (chr12:10,915,517 − 11,399,415) includes the TAS2R-containing locus on chromosome 12 encompassing the identified variant rs2708381. Dashed lines indicate GWAS p-values of 5 × 10− 8 (red) and 10− 6 (blue). The lead TAS2R46 SNP rs2708381 is indicated by the black arrow. Pairwise r2 was computed between rs2708381 and the rest of SNPs based on genotype data of the 141 unrelated panelists. (b) eQTL results for all the TAS2R genes in whole blood (top, green bars), minor salivary gland (middle, orange bars), and stomach (bottom, purple bars) tissues retrieved from the GTEx v8 data. c-e) Distributions of individual (c) bitterness, (d) hedonic, and (e) sweetness ratings of Ace-K in three genotype carriers of the TAS2R46 SNP rs2708381: TT (n = 7), TC (n = 57), and CC (n = 77). Effect size refers to the minor allele T. Box plots show the median value at the center line; the box spans the interquartile range, and the whiskers span the minimum and maximum (without outliers). Each data point represents one panelist labeled by genetic ancestry. gLMS, general labelled magnitude scale; sqrt, square-root transformed.
