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. Author manuscript; available in PMC: 2022 Aug 29.
Published in final edited form as: Lancet Rheumatol. 2022 Aug;4(8):e556–e565. doi: 10.1016/S2665-9913(22)00180-1

Figure 4. rs62175241 is associated with increased RNA expression the DIRC3-IGFBP5 axis Cis-eQTL analysis for rs62175241 on DIRC3 (A) and IGFBP5 (B) gene expression in 53 tissues from the GTEx project.

Figure 4

Tissue-specific eQTL associations with p values <0·01 are annotated (ie, we have labelled the tissue type for significant associations). p values refer to the linear model, adjusted for PC1-6. (C) Validation of rs62175241 as an eQTL for IGFPB5 expression in the HOXC6+ fibroblast cluster, using single-cell RNA sequencing of fibroblasts from 79 donors. The p value refers to the linear model, adjusted for average expression and 1 PEER factor. Association between rs62175241 genotype and DIRC3 (D) and IGFBP5 (E) expression, derived from paired whole-genome genotyping and RNA sequencing of surgical tenosynovium samples in the Oxford-carpal tunnel syndrome cohort (n=77, including 18 patients with CT genotype and one patient with TT genotype). The p value refers to Kruskal-Wallis test. CPM=counts per million. CTS=carpal tunnel syndrome. DIRC3=Disrupted In Renal Carcinoma 3. eQTL=expression quantitative trait. GTEX=genotype-tissue expression. IGFBP5=Insulin-like growth factor-binding protein-5.