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. 2019 Feb 23;71(4):561–570. doi: 10.1002/art.40748

Figure 3.

Figure 3

Compelling cartilage‐specific allelic imbalance (AI) genes. AI is reported as the average fraction (φ) of the alternative allele reads among the total number of reads with 95% confidence interval. A, Significant (P = 4.97 × 10−9) allelic imbalanced expression at rs3133187 with the G allele decreasing expression of RPS3 transcript in preserved and lesioned osteoarthritic (OA) cartilage relative to the A allele (meta‐φ = 0.42). The G allele of rs3133187 additionally confers significant association with hip OA (P = 1.1 × 10−3). B, Significant (P = 3.37 × 10−55) allelic imbalanced expression at rs1052429 with the A allele increasing expression of WWP2 transcript in preserved and lesioned OA cartilage relative to the G allele (meta‐φ = 0.56). The A allele of rs1052429, linked to the A allele of rs1566452 (r2 = 0.92, D′ = 1.0), additionally confers significant association with reduced minimal joint space width (P = 2.8 × 10−3), resulting in cartilage degeneration or OA. Horizontal dashed lines depict equal ratios of alleles. RAAK = Research Arthritis and Articular Cartilage (study).