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. 2018 Aug 29;362:k3225. doi: 10.1136/bmj.k3225

Table 2.

Genome wide significant single nucleotide polymorphisms (SNPs) for fracture

Locus Candidate gene SNP Distance to gene (kb) EA EAF Discovery stage*
Replication stage*
Combined*
Odds ratio (95% CI) P Odds ratio (95% CI) P Odds ratio (95% CI) P No of
fracture cases
I2
2p16.2 SPTBN1 rs4233949 −23.21 G 0.61 1.03 (1.02 to 1.05) 6.9×10−5 1.04 (1.05 to 1.05) 8.9×10−11 1.03 (1.02 to 1.04) 2.8×10−14 185 057 22.4
3p22.1 CTNNB1 rs430727 107.2 T 0.45 1.03 (1.02 to 1.05) 1.0×10−4 1.03 (1.02 to 1.04) 1.1×10−8 1.03 (1.02 to 1.04) 5.0×10−12 185 057 0
6q22.33 RSPO3 rs10457487 0 C 0.51 1.06 (1.05 to 1.08) 2.3×10−15 1.04 (1.03 to 1.05) 1.7×10−15 1.05 (1.04 to 1.06) 4.8×10−28 185 057 5
6q25.1 ESR1 rs2982570 0 C 0.58 1.05 (1.04 to 1.07) 8.1×10−12 1.03 (1.02 to 1.04) 5.2×10−10 1.04 (1.03 to 1.05) 4.5×10−19 185 057 23
7q31.31 WNT16, CPED1 rs2908007 −3.25, 24.67 A 0.60 1.08 (1.06 to 1.10) 1.2×10−20 1.05 (1.04 to 1.06) 5.6×10−22 1.06 (1.05 to 1.07) 2.3×10−39 185 055 0
7q21.3 C7orf76, SHFM1 rs6465508 0, 0 G 0.34 1.05 (1.03 to 1.07) 4.0×10−9 1.04 (1.03 to 1.05) 4.1×10−12 1.04 (1.03 to 1.05) 2.0×10−19 185 056 35
7p14.1 STARD3NL rs6959212 89.01 T 0.34 1.04 (1.02 to 1.06) 6.9×10−6 1.02 (1.01 to 1.04) 1.1×10−5 1.03 (1.02 to 1.04) 8.8×10−10 185 057 15.6
7p12.1 GRB10, COBL rs1548607 40.33, −182.4 G 0.32 1.05 (1.03 to 1.07) 3.2×10−8 1.02 (1.01 to 1.04) 2.1×10−4 1.03 (1.02 to 1.05) 4.7×10−10 185 052 40
9q34.11 FUBP3 rs7851693 0 G 0.35 1.03 (1.01 to 1.06) 1.3×10−4 1.05 (1.06 to 1.06) 4.8×10−16 1.04 (1.03 to 1.05) 5.0×10−19 185 057 23.5
10q21.1 MBL2/DKK1 rs11003047 −90.63 G 0.11 1.09 (1.07 to 1.12) 6.2×10−12 1.08 (1.07 to 1.10) 1.4×10−21 1.09 (1.07 to 1.10) 9.5×10−33 185 057 0
11q13.2 LRP5 rs3736228 0 T 0.15 1.05 (1.03 to 1.07) 3.0×10−5 1.07 (1.05 to 1.08) 2.8×10−18 1.06 (1.05 to 1.08) 1.0×10−21 185 056 24.6
14q32.12 RPS6KA5 rs1286083 0 T 0.82 1.04 (1.02 to 1.06) 8.8×10−5 1.05 (1.04 to 1.07) 3.0×10−14 1.05 (1.04 to 1.06) 1.6×10−17 185 085 43.3
17q21.31 SOST, DUSP3, MEOX1 rs2741856 −4.26, −16.65, 88.02 G 0.92 1.11 (1.08 to 1.14) 2.4×10−12 1.08 (1.06 to 1.11) 5.3×10−15 1.10 (1.07 to 1.11) 3.1×10−25 184 977 0
18p11.21 FAM210A, RNMT rs4635400 0, −7.149 A 0.36 1.06 (1.04 to 1.07) 1.5×10−12 1.03 (1.02 to 1.04) 2.7×10−9 1.04 (1.03 to 1.05) 1.1×10−18 185 057 22
21q22.2 ETS2 rs9980072 141.9 G 0.73 1.06 (1.04 to 1.08) 8.4×10−12 1.03 (1.01 to 1.04) 1.8×10−5 1.04 (1.03 to 1.05) 3.4×10−13 185 057 36

EA=effect allele; EAF=effect allele frequency; I2=index of heterogeneity.

*

Discovery stage (37 857 cases; 227 116 controls); replication stage (147 200 cases; 150 085 controls); combined (185 057 cases; 377 201 controls).