Fig. 3
GWAS SNPs and eQTLs in the ELMO1 locus. (a) GWAS results for hedonic ratings of Ace-K for genotyped (circles) and imputed (crosses) SNPs within the ELMO1 locus (chr7:37,388,543 − 37,437,969, pink bars) determined using PLINK clump function. Genomic coordinates are based on hg19. The demonstrated region (chr7:36,647,816 − 37,588,852) covers 50 kb upstream and 200 kb downstream region of the ELMO1 gene. Dashed lines indicate GWAS p-values of 5 × 10− 8 (red) and 10− 6 (blue). The top SNP, rs12671707, is indicated by the black arrow. Pairwise r2 was computed between rs12671707 and the rest of SNPs based on genotype data of the 141 unrelated panelists. (b) eQTL results for the ELMO1 gene in whole blood (top, green bars) and stomach (bottom, purple bars) tissues retrieved from the GTEx v8 data. c-e) Distributions of individual (c) hedonic, (d) bitterness, and (e) sweetness ratings of Ace-K in three genotype carriers of the ELMO1 SNP rs12671707: GG (n = 4), GA (n = 34), and AA (n = 103). Effect size refers to the minor allele G. 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.
