Cindy Boer

178 | Chapter 4.1 Table3: Possible Causal Osteoarthritis Genes Lead OA SNV Coding Variant & Fine- map FineMapped Gene eQTL colocalization (Gtex/OA tissue) Cartilage Subchon- dral Bone Blood pQTL MR CoLoc musculoskeletal phenotype Score Gene Druggable Genome Diff. Expresion Diff. Abundance Diff. Expresion Mouse Human rs10405617 ILF3(2/1) ILF3 3 ILF3 . rs11071366 ALDH1A2 ALDH1A2 (-) ALDH1A2 3 ALDH1A2 Tier 1 rs11164653 COL11A1 COL11A1 COL11A1 3 COL11A1 Tier 3A rs1149620 TSKU TSKU(5/4) 3 TSKU . rs11588850 SNAP47 (3/3) SNAP47 3 SNAP47 . rs116934101 CUX1 CUX1 (+) CUX1 3 CUX1 . rs12160491 TRIOBP(22/13) TRIOBP (-) 3 TRIOBP . rs12908498 SMAD3 SMAD3(1/1) SMAD3 SMAD3 5 SMAD3 Tier 2 rs12914479 IGF1R(1/1) IGF1R 3 IGF1R Tier 1 rs1327123 TSEN15 TSEN15 (8/5) 3 TSEN15 . rs1330349 TNC TNC (+) TNC (+) 3 TNC Tier 1 rs1330349 COL27A1 (-) COL27A1 COL27A1 3 COL27A1 Tier 3A rs143083812 SMO SMO SMO 3 SMO Tier 1 rs143384 GDF5 GDF5(4/1) GDF5 GDF5 5 GDF5 Tier 3A rs1530586 TACC3(9/6) TACC3 3 TACC3 . rs1530586 FGFR3(6/4) FGFR3 FGFR3 4 FGFR3 Tier 1 rs17615906 FBN2(2/2) FBN2 FBN2 4 FBN2 Tier 3A rs2276749 VGLL4 VGLL4 VGLL4(1/0) 3 VGLL4 . rs2716212 MAP2K6 MAP2K6(1/1) 3 MAP2K6 Tier 1 rs2716212 PRKAR1A (-) PRKAR1A PRKAR1A 3 PRKAR1A . rs34195470 WWP2 WWP2 (-) WWP2 3 WWP2 . rs3740129 CHST3 CHST3(6/1) CHST3 CHST3 5 CHST3 Tier 1 rs3771501 TGFA TGFA(2/2) TGFA 4 TGFA Tier 1 rs3884606 FGF18 FGF18 (+) FGF18 3 FGF18 Tier 1 rs4252548 IL11 IL11 IL11 (+) IL11 (+) 4 IL11 Tier 3A rs4380013 USP8 USP8(6/2) 3 USP8 . rs58973023 TNFSF11 (+) TNFSF11 (+) TNFSF11 TNFSF11 4 TNFSF11 Tier 1 rs62578126 LMX1B(3/2) LMX1B LMX1B 4 LMX1B . rs66989638 C2orf40 C2orf40 C2orf40 (40/21) 4 C2orf40 Tier 3B