Cindy Boer

170 | Chapter 4.1 ▲ Figure 2 : Correlation and overlap between osteoarthritis genetics . a) Heatmap-plot of all GO consortium identified osteoarthritis associated SNVs (single nu-cleotide variants). Effect sizes (OR: odds ratio) and p-values were examined foreach lead SNV in each performed osteoarthritis phenotype GWAS results. OR are plotted as colour, and p-values are represented as symbols in the box. Heatmap-plots are ordered according to SNV associations: 1: weight-bearing joints only (hip, knee and spine), 2: both weight and non-weight bearing joints (hip, knee, spine, hand, finger and thumb), 3: non-weight bearing joints (hand, finger and thumb), 4: any-site osteoarthritis SNVs, and 5: rare variants MAF ≤0.01. b) Heatmap-plot of the genetic correlation (R2) between the examined osteoarthritis phenotypes. c) Venn diagram depicting the number and overlap of SNVs associated with weight-bearing (Knee, hip, spine) joints and non- weight bearing joints (hand, thumb and finger).