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Fig. 1 | Arthritis Research & Therapy

Fig. 1

From: Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk

Fig. 1

In silico and methylation quantitative trait locus (mQTL) analysis of the rs11732213 OA risk signal. A Schematic representation of chromosome 4 highlighting in red the physical location of the signal. Coordinates from UCSC hg19. B Schematic localisation of rs11732213, of cg20987369 and cg25007799 (within the DMR), and of all nearby genes at the signal. C Schematic of long-range chromatin interaction from ChIA-PET in the K562 cell line (top red curve) and from Hi-C in the IMR-90 and H1-hESC cell lines (bottom red curve) sourced from the Washington University epigenome browser. D Magnification of the DMR and the position of all 14 CpG sites in the region. cg20987369 is CpG8, cg25007799 is CpG13. E mQTL analysis showing cartilage DNA methylation values at the CpGs according to genotype at rs11732213. Methylation data is in the form of β-values ranging from 0 (no methylation) to 1 (complete methylation) and expressed as a percentage. In the violin plots, solid and dashed horizontal lines represent the median and interquartile range. Difference in numbers (n) due to variable number of patient samples per CpG passing quality control, with numbers in parentheses the number of patients per genotype (TT, TC, CC). P-values calculated by linear regression. * = P < 0.05; ** = P < 0.01; *** = P < 0.001; ns = not significant (P > 0.05)

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