Figure 5.

AEI, mQTL, and meQTL analyses in fetal cartilage. A, Allelic ratios for COLGALT2 transcript SNP rs114661926 (C/G; C = OA risk allele) and for TSEN15 transcript SNP rs2274432 (G/A; G = OA risk allele). Numbers on x‐axes indicate patient sample identification numbers. Symbols in graphs represent the mean of 3 technical replicates. Mean complementary DNA (cDNA) values measured across all samples are shown as box plots. Each box represents the interquartile range. Lines inside the box represent the median. Whiskers represent the minimum and maximum values. Dashed lines represent the allele ratios in DNA. P values were calculated using Wilcoxon's matched pairs signed rank test. B, DNAm values at cg15204595 and cg21606956 stratified by genotype at rs1046934, using DNA derived from fetal cartilage, are shown as violin plots. Solid lines and dashed lines inside the plots represent the median and interquartile range, respectively. P values were calculated by linear regression. C, Graphs show AEI allelic ratios (log₂) for COLGALT2 (rs114661926) and TSEN15 (rs2274432) plotted against matched DNAm levels (M‐values) at cg15204595 and cg21606956. Symbols represent data from 1 individual. P values were calculated by linear regression. See Figure 3 for other definitions. Color figure can be viewed in the online issue, which is available at http://onlinelibrary.wiley.com/doi/10.1002/art.42427/abstract.