Figure 3

Wild-type (WT) and Novel Variant (NV) isoforms of the GSDMB gene and their expression with genotype. A. Showing exons 4–9 of the four RefSeq isoforms and the novel GSDMB transcipt (GSDMB NV), which is missing exons 5–8. Half the Reference Sequence (WT) transcripts include exon 6 and two are lacking exon 6; NM001165958.1 is the full length transcript. The star shows the position of rs11078928 (acceptor splice site of intron 5). The location of the Custom Taqman Assay Primers (indicated by an arrow) and probe (indicated by a rectangle) are shown. B. Chart showing the expression of the novel transcript GSDMB NV by genotype. Homozygotes for the minor allele show negligible expression of the novel transcript. Expression is normalised to the endogenous control RPLPO, and is shown relative to the expression of GSDMB NV in heterozygotes. Significant results (P < 0.05) are indicated by an asterix. C. Chart showing the expression with genotype of the GSDMB transcripts which include exon 6 (NM001165958.1, NM001165959.1). Homozygotes for the minor allele show no expression of exon 6-containing transcripts. Expression is normalised to the endogenous control RPLPO, and is shown relative to the expression of exon 6 GSDMB transcripts in heterozygotes. D-E. Charts showing total expression of GSDMB (all RefSeq isoforms, including novel) and expression of GSDMB WT (all RefSeq isoforms). Expression is normalized to the endogenous control RPLPO, and is shown relative to total and WT expression respectively in heterozygotes. Both show a decrease in expression with the minor allele, although these results did not reach statistical significance.