Cindy Boer

100 | Chapter 2.2 Table 2: Summary of radiographic hand OA structural phenotypes GWAS results Discovery* Replication† Meta-Analysis‡ rsID Chr EA NEA EAF Beta SE P-value Beta SE P-value Beta SE P-value Locus§ Thumb KLsum rs10916199 1 A G 0.81 -0.31 0.04 2.1x10 -12 -0.27 0.13 3.8x10 -02 -0.31 0.04 2.4x10 -13 [ZNF678] rs2070852 11 C G 0.69 -0.19 0.04 4.5x10 -07 -0.22 0.11 3.4x10 -02 -0.19 0.04 4.7x10 -08 [F2] rs621457 11 A G 0.52 -0.18 0.03 2.4x10 -07 -0.07 0.11 5.2x10 -01 -0.17 0.03 3.3x10 -07 UVRAG-[]--WNT11 Finger KLsum rs4764133 12 T C 0.38 0.61 0.09 5.7x10 -12 1.38 0.38 2.7x10 -04 0.65 0.09 4.8x10-14 MGP—[]-ERP27 rs12049916 12 G A 0.22 0.57 0.11 7.5x10 -08 0.73 0.44 9.9x10 -02 0.58 0.10 2.0x10 -08 [CCDC91] rs1950427 14 T C 0.12 0.66 0.13 6.2x10 -07 0.63 0.53 2.4x10 -01 0.66 0.13 3.0x10 -07 STXBP6---[]---NOVA1 rs1029003 21 A G 0.46 0.43 0.09 9.3x10 -07 0.35 0.37 3.4x10 -01 0.42 0.09 5.9x10 -07 ETS2---[]---PSMG1 Hand Klsum rs4764133 12 T C 0.38 0.75 0.12 3.0x10 -10 1.76 0.49 2.9x10 -04 0.81 0.12 2.9x10 -12 MGP—[]-ERP27 rs12049916 12 A G 0.77 0.77 0.14 5.3x10 -08 0.90 0.56 0.11 0.78 0.14 1.5x10 -08 [CCDC91] EA: Effect Allele, NEA: Non Effect Allele, EAF: Effec t Allele Frequency, SE: Standard Error * Discovery consists of Rotterdam Study RS-I, RSII, RSIII, samples sizes per phenotype are; Thumb KLsum n=8,778; Finger KLsum n=8,714; Hand KLsum n=8629. † Replication cohorts consist of Framingham Heart Study n=1203 ‡ Meta-analysis is a meta-analysis of discovery and replication cohorts using inverse variance weighted meta-analysis using METAL. §SNP location represented by [], if the SNP is localized intergenic the dashes denotes the distance,-≤10 kb,--≤100kb,---≤1Mkbkb, ----->1Mkb.