Fig. 2
From: PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle
Novel DUX4 target gene signatures only discriminate some FSHD muscle biopsy gene expression data sets from controls. a A box plot demonstrates that the Choi et al.34 RNA-seq-based 212 DUX4 target gene signature validates as a biomarker on the RNA-seq FSHD muscle biopsy data set published by Yao et al.10. The box represents the interquartile range (IQR), with the median indicated by a line. Whiskers denote min (1.5*IQR, max (observed value)). ‘‘o’’ represents data points greater than 1.5 IQR from the median, n = 15 FSHD and n = 8 control muscle biopsies. b A forest plot displays the results of meta-analysis of the discriminatory power of the Choi et al.34 DUX4 target gene signature across five published microarray FSHD muscle biopsy data sets (in total n = 82 FSHD and n = 82 control muscle biopsies). The differential scores (FSHD score minus control score) alongside 95% confidence intervals are provided. The Choi et al.34 DUX4 target gene signature is not a significant biomarker on any microarray data set nor on meta-analysis. Note: in the Choi et al.34 study, target genes were analysed after 8 h of DUX4 induction. c A box plot demonstrates that the Geng et al.35 microarray based 165 DUX4 target gene signature validates as a biomarker on the RNA-seq FSHD muscle biopsy data set published by Yao et al.10. The box represents the interquartile range (IQR), with the median indicated by a line. Whiskers denote min (1.5*IQR, max (observed value)). ‘‘o’’ represents data points greater than 1.5 IQR from the median, n = 15 FSHD and n = 8 control muscle biopsies. d A forest plot displays the results of meta-analysis of the discriminatory power of the Geng et al.35 DUX4 target gene signature across five published microarray FSHD muscle biopsy data sets (in total n = 82 FSHD and n = 82 control muscle biopsies). The differential scores (FSHD score minus control score) alongside 95% confidence intervals are provided. The Geng et al.35 DUX4 target gene signature is not a significant biomarker on any individual microarray data set, however, it is significant on meta-analysis. For single studies a two-tailed Wilcoxon U-test was performed to assess significance, while a Fisher’s combined test was employed for overall assessment: either the p-value is given, or an asterisk denotes p < 0.05
