Cindy Boer

120 | Chapter 3.1 Table 1: GWA Table 1. Results GWAS quantitative bilateral phenotype of osteoarthritis of the hand (KL sum score), discovery, replication and meta-analysis Discovery* Replication** Combined SNP Chr EA NEA EAF Beta SE P-value Beta SE P-value Beta SE p-value Locus† rs1494593 5 T C 0.88 -0.83 0.18 4.5x10 -06 -0.15 0.32 0.63 -0.67 0.16 2.3x10 -05 PRDM9--[]---C5orf17 rs114370021 5 A G 0.27 -0.84 0.18 2.1x10 -06 0.48 0.32 0.13 -0.53 0.16 7.0x10 -04 [TENM2] rs7770034 6 A G 0.48 -0.54 0.12 3.4x10 -06 -0.36 0.21 8.7x10 -02 -0.50 0.10 1.0x10 -06 CDC5L--[]---SUPT3H 6:132063842:D‡ 6 D I 0.27 0.64 0.13 1.3x10 -06 0.41 0.23 7.8x10 -02 0.58 0.11 3.8x10 -07 [ENPP3] 11:90657297:D 11 D I 0.11 0.93 0.19 1.4x10 -06 0.33 0.33 0.31 0.78 0.17 2.9x10 -06 DISC1FP1-[]----FAT3 rs4764133 12 T C 0.39 0.75 0.12 3.5x10 -10 1.11 0.22 3.3x10 -07 0.83 0.10 1.8x10 -15 MGP--[]- ERP27 rs7139060 12 A G 0.67 -0.73 0.12 6.1x10 -09 0.11 0.22 0.62 -0.52 0.11 1.5x10 -06 [CCDC91] rs1950427 14 T C 0.12 0.86 0.18 1.1x10 -06 -0.28 0.30 0.36 0.57 0.15 1.8x10 -04 STXBP6---[]---NOVA1 rs6108226 20 T C 0.77 0.70 0.15 3.9x10 -06 0.20 0.27 0.44 0.58 0.13 1.1x10 -05 PLCB1--[]--PLCB4 * Discovery: RS-I, RS-II, RS-III, n= 8,743 ** Replication : GARP, LSS, TwinsUK & FHS, n= 4,011 †SNP location represented by [], if the SNP is localized intergenic the dashes denotes the distance, -≤10 kb, --≤100kb, ---≤1000kb, ----≤1Mkb, -----≥1Mkb ‡For TwinsUK a proxy SNP was used: rs3850251 r2=1 D’=1 (as calculated in the RSI, RSII and RSIII cohorts) EA: effect allele, NEA: non effect allele, SE: standard Error