Fig. 1

Transcriptomics analysis of adipose and muscle tissue, and fibroblast lines. A–C The deviation of variance stabilized counts (VST) from the mean of all samples are shown for each sample (columns). Genes are clustered according to their regulation as defined by the Benjamini-Hochberg adjusted p-value (< 0.05) in the DESeq2 analysis. Only genes with counts in 9 or more samples in at least one group for at least one comparison (pre-HD vs. controls; early-HD vs. controls; early HD vs. pre-HD) are shown. Co-variates (RNAseq batch, site of sampling (site), gender, BMI and the CAG allele sizes) are shown above the expression matrix. A 78 genes in adipose were significantly dysregulated. B 53 genes in muscle were significantly dysregulated. C 21 genes in the fibroblast lines were significantly dysregulated. D–F Gene ontology enrichment analysis with Enrichr (see the “Methods” section). Non-redundant biological process enrichments (GO Biological Process 2018) and potential regulators (ChEA 2016, ENCODE 2015, TTRUST 2019) are shown. Only terms with p < 0.05 (Fisher exact test) and at least 2 genes for the enrichment were considered. The combined score of enrichment is shown in brackets. GO enrichment for adipose (D), muscle (E), and fibroblast (F) RNAseq data. See also Additional files 2, 3, 4, 5, 6 and 7 for full data