Table 1.
Marker Information |
Lumbar spine BMD |
Femoral neck BMD |
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Effect estimate (in SD) |
Heterogeneity |
Effect estimate (in SD) |
Heterogeneity |
Site Specificity Ho:βLS=βFN |
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Locus |
SNP |
A1*/A2 |
FREQ* |
Type |
Closest Gene |
Distance (kb) |
Beta (?LS) |
SE |
P-value |
OMA-GC P-value |
Q P-value |
I2 |
Beta |
SE |
P-value |
OMA-GC P-value |
Q P-value |
I2 |
P-value |
Novel loci associated with BMD at GWS level | |||||||||||||||||||
1p31.3 | rs1430742 | T/C | 0.79 | I | GPR177 | 44.0 | 0.105 | 0.014 | 2.6E-13 | 2.5E-12 | 0.26 | 21 | 0.100 | 0.014 | 1.8E-12 | 1.2E-11 | 0.75 | 0 | 0.82 |
rs2566755 | T/C | 0.79 | G | GPR177 | 44.3 | 0.104 | 0.014 | 3.3E-13 | 3.1E-12 | 0.27 | 20 | 0.100 | 0.014 | 1.7E-12 | 1.1E-11 | 0.76 | 0 | 0.83 | |
3p22 | rs87938 | A/G | 0.45 | G | CTNNB1 | 103.3 | −0.043 | 0.012 | 1.7E-04 | 3.1E-04 | 0.24 | 23 | −0.070 | 0.011 | 8.1E-10 | 3.4E-09 | 0.14 | 34.5 | 0.10 |
5q14 | rs1366594 | A/C | 0.55 | G | MEF2C | 197.0 | 0.005 | 0.012 | 0.65 | 0.66 | NC | NC | −0.085 | 0.011 | 1.3E-13 | 1.1E-12 | 0.62 | 0 | 3.2E-08 |
7p14 | rs1524058 | T/C | 0.40 | I | STARD3NL | 81.7 | −0.070 | 0.012 | 1.1E-09 | 5.2E-09 | 0.18 | 30 | −0.038 | 0.011 | 8.9E-04 | 1.4E-03 | 0.05 | 48 | 0.05 |
7q21.3 | rs4729260 | C/G | 0.68 | I | FLJ42280 | 14.9 | −0.081 | 0.013 | 1.7E-10 | 9.5E-10 | 0.14 | 35 | −0.085 | 0.012 | 9.4E-12 | 5.4E-11 | 0.77 | 0 | 0.82 |
rs7781370 | T/C | 0.34 | I | FLJ42280 | 0.7 | −0.074 | 0.012 | 1.1E-09 | 5.5E-09 | 0.12 | 37 | −0.083 | 0.012 | 4.7E-12 | 2.9E-11 | 0.68 | 0 | 0.60 | |
11p14.1 | rs16921914 | A/G | 0.27 | G | DCDC5 | 61.6 | 0.077 | 0.013 | 2.3E-09 | 1.0E-08 | 0.52 | 0 | 0.038 | 0.013 | 0.003 | 0.005 | NC | NC | 0.03 |
11p15 | rs7117858 | A/G | 0.80 | G | SOX6 | 297.3 | −0.042 | 0.014 | 0.004 | 0.005 | NC | NC | 0.088 | 0.014 | 6.4E-10 | 2.7E-09 | 0.70 | 0 | 1.5E-10 |
16q24 | rs10048146 | A/G | 0.81 | G | FOXL1 | 95.4 | −0.093 | 0.016 | 1.7E-08 | 6.0E-08 | 0.21 | 28 | −0.085 | 0.016 | 1.7E-07 | 4.9E-07 | 0.96 | 0 | 0.73 |
17q12 | rs9303521 | T/G | 0.46 | G | CRHR1 | 56.5 | −0.068 | 0.012 | 1.4E-08 | 5.0E-08 | 0.05 | 49 | −0.055 | 0.012 | 3.6E-06 | 8.3E-06 | 0.07 | 45 | 0.46 |
Suggestive loci now associated with BMD at GWS level | |||||||||||||||||||
2p21 | rs11898505 | A/G | 0.34 | G | SPTBN1 | 1.1 | 0.067 | 0.012 | 1.6E-08 | 6.3E-08 | 0.39 | 6 | 0.027 | 0.012 | 0.02 | 0.03 | NC | NC | 0.02 |
4q21.1 | rs1471403 | T/C | 0.34 | G | MEPE | 7.3 | 0.068 | 0.012 | 1.5E-08 | 5.7E-08 | 0.18 | 30 | 0.059 | 0.012 | 7.8E-07 | 2.0E-06 | 0.56 | 0 | 0.58 |
11p11.2 | rs7932354 | T/C | 0.29 | I | ARHGAP1 | 0.1 | 0.056 | 0.013 | 1.1E-05 | 2.4E-05 | 0.61 | 0 | 0.073 | 0.012 | 4.0E-09 | 1.5E-08 | 0.68 | 0 | 0.32 |
17q21 | rs228769 | C/G | 0.80 | I | HDAC5 | 7.8 | 0.067 | 0.014 | 4.0E-06 | 1.0E-05 | 0.87 | 0 | 0.081 | 0.014 | 1.7E-08 | 5.8E-08 | 0.94 | 0 | 0.49 |
Known loci associated with BMD at GWS level | |||||||||||||||||||
1p36 | rs7524102 | A/G | 0.83 | G | ZBTB40 | 79.9 | 0.094 | 0.015 | 3.2E-10 | 1.7E-09 | 0.27 | 19.5 | 0.079 | 0.015 | 8.8E-08 | 2.6E-07 | 0.64 | 0 | 0.48 |
rs6426749 | C/G | 0.17 | I | ZBTB40 | 66.9 | 0.107 | 0.017 | 7.6E-10 | 3.8E-09 | 0.74 | 0 | 0.082 | 0.015 | 4.8E-08 | 1.5E-07 | 0.64 | 0 | 0.26 | |
6q25 | rs2504063 | A/G | 0.40 | G | ESR1 | 38.0 | −0.078 | 0.012 | 6.1E-11 | 3.7E-10 | 0.03 | 52.7 | −0.066 | 0.012 | 3.0E-08 | 9.6E-08 | 0.84 | 0 | 0.45 |
rs2941740 | A/G | 0.57 | I | C6orf97 | 67.3 | 0.070 | 0.012 | 2.0E-09 | 9.3E-09 | 0.01 | 59.0 | 0.073 | 0.012 | 2.0E-10 | 9.1E-10 | 0.02 | 57.2 | 0.84 | |
8q24 | rs2062377 | A/T | 0.56 | I | TNFRSF11B | 43.0 | 0.094 | 0.012 | 3.5E-16 | 5.7E-15 | 0.31 | 15.4 | 0.062 | 0.011 | 5.4E-08 | 1.7E-07 | 0.61 | 0 | 0.05 |
rs11995824 | C/G | 0.45 | I | TNFRSF11B | 48.3 | −0.093 | 0.012 | 1.1E-15 | 1.6E-14 | 0.24 | 22.3 | −0.066 | 0.011 | 7.1E-09 | 2.6E-08 | 0.48 | 0 | 0.10 | |
11q13.4 | rs599083 | T/G | 0.69 | G | LRP5 | 24.4 | −0.067 | 0.012 | 4.7E-08 | 1.7E-07 | 0.50 | 0 | −0.047 | 0.012 | 9.7E-05 | 0.0002 | 0.76 | 0 | 0.25 |
12q13 | rs2016266 | A/G | 0.68 | G | SP7 | 1.6 | 0.070 | 0.012 | 1.3E-08 | 5.2E-08 | 0.93 | 0 | 0.046 | 0.012 | 1.9E-04 | 0.0003 | 0.81 | 0 | 0.16 |
13q14 | rs9533090 | T/C | 0.50 | I | AKAP11 | 54.0 | −0.120 | 0.012 | 5.4E-25 | 4.6E-23 | 0.02 | 57.1 | −0.041 | 0.011 | 3.9E-04 | 0.0006 | 0.39 | 5.7 | 1.1E-06 |
18q21 | rs884205 | A/C | 0.27 | I | TNFRSF11A | 1.4 | −0.078 | 0.0136 | 9.4E-09 | 3.8E-08 | 0.90 | 0 | −0.039 | 0.013 | 0.004 | 0.005 | NC | NC | 0.04 |
TypeSNP:G=Genotyped(atleastin1 study) I=Imputed
Distance: to coding region
Bold: P<5×10−8
OMA-GC: overall meta-analysis genomic control
NC: Not calculated P>0.001
Q P-value: Q-statistic P-value