Fig. 3

a Relative abundances of the three most expressed isoforms in skin (not sun-exposed) from the gene KLK5 (chr19:50,943,303–50,953,093, reverse strand, KLK5-201, KLK5-202, and KLK5-203, all protein-coding), for each ancestry (European American, EA, African American, AA) and genotype group at the rs2739412 locus (chr19:50,952,558, A/C), represented as boxplots. In boxplots, the box represents the first to third quartiles and the median, while the whiskers indicate ± 1.5 \(\times\) interquartile range. The least abundant isoforms are grouped in Others. The number of individuals in each genotype group is shown between parentheses. European American individuals that are homozygous for the reference allele (AA) at the SNP locus, present larger levels of KLK5-201 (blue), with respect to KLK5-202 (green) and KLK5-203 (red). In contrast, CC homozygous express preferentially KLK5-203 (red). Heterozygous individuals exhibit intermediate abundances. This is not observed for African American individuals. b Exonic structure of the isoforms of KLK5, which differ in the structure of the 5′ untranslated region (5′ UTR). The dotted vertical line marks the location of the SNP. c Sashimi plot corresponding to the 5′ UTR, which represents the median coverage and splice junction counts across all skin (not sun-exposed) samples of each ancestry and genotype group at rs2739412, obtained using ggsashimi [46]