Table 1 GWS DXA bone area variants in the Icelandic discovery samples
From: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures
Discovery samples | Replication samples | All sets combined | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Area | SNP (region) | Closest Gene | VA | EA / OA | Freq | P | Effect | P | Effect | P | Effect (95% CI) | P het |
LS | rs11614913 (12q13.13) | MIR196A2 | in pre-mir | T/C | 47.8 | 1.5 × 10−23 | −0.094 | 1.5 × 10−20 | −0.086 | 2.3 × 10−42 | −0.09 (−0.103, −0.077) | 5.4 × 10−1 |
rs143384 (20q11.22) | GDF5 | 5’UTR | G/A | 37.0 | 9.9 × 10−17 | 0.080 | 3.5 × 10−7 | 0.047 | 4.4 × 10−21 | 0.063 (0.050, 0.076) | 1.3 × 10−2 | |
rs10917168 (1p36.12) | WNT4 | intergenic | T/A | 28.4 | 3.3 × 10−12 | 0.072 | 2.6 × 10−13 | 0.075 | 5.8 × 10−24 | 0.074 (0.059, 0.088) | 8.4 × 10−1 | |
rs143793852 (18q21.1) | DYM | intron | C/CA | 43.4 | 5.6 × 10−11 | 0.062 | 1.1 × 10−3 | 0.036 | 1.2 × 10−12 | 0.051 (0.037, 0.065) | 7.3 × 10−2 | |
rs8036748 (15q25.2) | ADAMTSL3 | intron | A/T | 46.2 | 1.3 × 10−10 | −0.060 | 7.8 × 10−5 | −0.037 | 2.2 × 10−13 | −0.049 (−0.061, −0.036) | 8.2 × 10−2 | |
rs2585073 (15q25.2) | SH3GL3 | intron | C/G | 34.9 | 1.3 × 10−10 | 0.063 | 0.55 | 0.006 | 5.6 × 10−7 | 0.035 (0.021, 0.049) | 4.7 × 10−5 | |
rs9341808 (6q14.1) | BCKDHB | intron | C/A | 47.1 | 1.7 × 10−10 | 0.060 | 8.9 × 10−8 | 0.049 | 1.1 × 10−16 | 0.054 (0.042, 0.067) | 4.0 × 10−1 | |
rs72979233 (11q13.4) | CHRDL2 | downstream | G/A | 25.7 | 4.4 × 10−10 | −0.067 | 9.8 × 10−4 | −0.034 | 2.1 × 10−11 | −0.05 (-0.064, −0.035) | 1.2 × 10−2 | |
Hip | rs143384 (20q11.22) | GDF5 | 5’UTR | G/A | 37.0 | 4.2 × 10−18 | 0.085 | 1.0 × 10−6 | 0.054 | 2.2 × 10−22 | 0.071 (0.057, 0.086) | 3.6 × 10−2 |
rs3753841 (1p21.1) | COL11A1 | p.P1284L | G/A | 39.1 | 1.0 × 10−17 | 0.083 | 1.4 × 10−5 | 0.048 | 1.3 × 10−20 | 0.068 (0.054, 0.082) | 1.7 × 10−2 | |
rs9830173 (3p14.3) | ERC2 | intron | C/G | 38.4 | 6.0 × 10−13 | 0.070 | 2.2 × 10−3 | 0.035 | 8.0 × 10−14 | 0.055 (0.041, 0.07) | 2.0 × 10−2 | |
rs1507462 (18q23) | intergenic | A/G | 30.4 | 1.8 × 10−12 | −0.073 | 1.5 × 10−3 | −0.034 | 3.5 × 10−13 | −0.054 (−0.069, −0.04) | 8.9 × 10−3 | ||
rs72834687 (17q23.2) | TBX4 | intron | A/G | 24.2 | 1.7 × 10−10 | −0.068 | 9.4 × 10−2 | −0.021 | 2.6 × 10−9 | −0.048 (−0.064, −0.032) | 4.3 × 10−3 | |
Inter | rs12601029 (17q24.3) | SOX9 | intergenic | A/G | 33.5 | 4.4 × 10−14 | 0.074 | 2.8 × 10−5 | 0.068 | 6.2 × 10−18 | 0.072 (0.056, 0.089) | 7.5 × 10−1 |
rs1159421 (17q24.3) | SOX9 | intergenic | T/C | 44.7 | 1.6 × 10−13 | -0.069 | 5.4 × 10−3 | −0.051 | 4.6 × 10−15 | −0.065 (−0.082, −0.049) | 3.8 × 10−1 | |
rs3753841 (1p21.1) | COL11A1 | p.P1284L | G/A | 39.1 | 2.2 × 10−11 | 0.064 | 3.6 × 10−3 | 0.041 | 7.4 × 10−13 | 0.057 (0.041, 0.072) | 1.8 × 10−1 | |
rs9830173 (3p14.3) | ERC2 | intron | C/G | 38.4 | 7.9 × 10−11 | 0.062 | 3.0 × 10−2 | 0.032 | 3.2 × 10−11 | 0.053 (0.037, 0.069) | 1.2 × 10−1 | |
Troch | rs143384 (20q11.22) | GDF5 | 5’UTR | G/A | 37.0 | 6.7 × 10−18 | 0.083 | 2.6 × 10−3 | 0.043 | 1.1 × 10−18 | 0.071 (0.055, 0.086) | 2.0 × 10−1 |
rs3753841 (1p21.1) | COL11A1 | p.P1284L | G/A | 39.1 | 8.8 × 10−11 | 0.062 | 5.7 × 10−8 | 0.077 | 4.0 × 10−17 | 0.067 (0.051, 0.082) | 3.8 × 10−2 | |
rs10783854 (12q14.1) | CTDSP2 | upstream | T/C | 35.6 | 5.6 × 10−10 | −0.060 | 2.4 × 10−1 | -0.019 | 3.1 × 10−9 | −0.049 (−0.066, −0.033) | 3.0 × 10−2 | |
FN | rs12507427 (4q31.21) | HHIP | 5’UTR | A/T | 43.1 | 1.2 × 10−10 | 0.059 | 1.1 × 10−4 | 0.110 | 8.4 × 10−14 | 0.054 (−0.036, −0.007) | 3.9 × 10−1 |
