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. 2018 Jan 4;102(1):88–102. doi: 10.1016/j.ajhg.2017.12.005

Table 1.

Index SNPs of Loci Not Previously Associated with BMD

CHR BP rs Number Locus A1 A2 EAF Effect p N Annotation Closest Gene Notes LS-beta LS-P FN-beta FN-P
1 8422676 rs2252865 1p36.23 T C 0.32 −0.033 4.72 × 10−8 66,075 intronic RERE novel biology −0.019 0.043 −0.025 0.002
1 110475971 rs7548588 1p13.3 T C 0.61 −0.037 9.29 × 10−8 66,240 intergenic CSF1 osteoclast differentiation39 −0.030 0.001 −0.022 0.005
1 220038825 rs185048405 1q41 T C 0.54 0.042 3.07 × 10−8 66,540 intronic SLC30A10 manganese transport40 −0.035 0.076 −0.003 0.878
2 27741072 rs780096 2p23.3 C G 0.44 −0.031 4.58 × 10−8 66,578 intronic GCKR calcium regulation,41 hepatic traits42 −0.014 0.129 −0.017 0.029
2 40630678 rs10490046 2p22.1 A C 0.76 0.043 1.43 × 10−10 65,961 intronic SLC8A1 bone mineralization43 0.015 0.162 0.021 0.025
2 68962137 rs10048745 2p13.3 A G 0.25 −0.039 6.44 × 10−8 66,565 5′ UTR ARHGAP25 novel biology −0.050 1.03 × 10−6 −0.036 5.21 × 10−5
2 85484818 rs11904127 2p11.2 A G 0.55 −0.032 2.65 × 10−8 66,561 intronic TCF7L1 factors in Wnt signaling44 −0.021 0.023 −0.015 0.054
2 198874006 rs1595824 2q33.1 T C 0.47 0.034 2.65 × 10−8 60,171 intronic PLCL1 negative regulation of bone formation45 0.022 0.201 0.052 2.20 × 10−4
2 202799604 rs2350085 2q33.2 T C 0.87 −0.064 3.80 × 10−14 66,412 intergenic FZD7 factors in Wnt signaling46 −0.042 0.002 −0.044 1.96 × 10−4
2 234303405 rs838721 2q37.1 A G 0.44 −0.031 4.48 × 10−8 65,516 intronic DGKD calcium regulation41 −0.016 0.070 −0.014 0.068
5 112221869 rs818427 5q22.2 T C 0.31 0.034 2.37 × 10−8 66,592 intronic APC bone metabolism47 0.004 0.645 0.008 0.327
5 122847622 rs11745493 5q23.2 A G 0.75 0.044 7.75 × 10−12 66,597 promoter CSNK1G3 novel biology 0.010 0.326 0.025 0.005
7 27989403 rs757138 7p15.1 T G 0.69 −0.035 3.33 × 10−8 66,043 intronic JAZF1 novel biology −0.016 0.126 −0.025 0.004
7 30957702 rs28362721 7p14.3 T C 0.18 −0.059 6.71 × 10−14 66,274 intronic AQP1 bone metabolism48 −0.037 0.002 −0.049 1.39 × 10−6
7 50901491 rs1548607 7p12.1 A G 0.69 0.036 4.18 × 10−8 66,564 intergenic GRB10 novel biology 0.034 5.59 × 10−4 0.005 0.517
7 99130834 rs34670419 7q22.1 T G 0.04 −0.088 1.09 × 10−8 66,336 3′ UTR ZKSCAN5 DHEAS and aging mechanisms49 −0.127 9.28 × 10−8 −0.080 8.19 × 10−5
10 112245400 rs73349318 10q25.2 A T 0.87 −0.047 2.68 × 10−8 66,341 intronic DUSP5 osteoclast differentiation50 −0.042 0.001 −0.051 8.76 × 10−6
10 124015986 rs10788264 10q26.13 A G 0.48 −0.034 2.61 × 10−8 66,565 intergenic TACC2 novel biology −0.030 9.64 × 10−4 −0.029 1.29 × 10−4
11 242859 rs55781332 11p15.5 A G 0.78 −0.055 8.07 × 10−16 66,198 intronic PSMD13 novel biology −0.046 1.76 × 10−5 −0.026 0.005
11 35083633 rs2553773 11p13 C G 0.41 −0.037 1.49 × 10−10 66,619 intergenic CD44 osteoclast activity51 −0.015 0.101 −0.015 0.054
11 35981346 rs113964474a 11p.13 A G 0.03 0.485 1.41 × 10−8 6,748 intronic LDLRAD3 novel biology
11 69299537 rs4980659 11q13.3 C G 0.52 0.033 1.16 × 10−8 66,537 intergenic CCND1 target of Wnt signaling52 0.039 1.58 × 10−5 0.023 0.003
11 121913230 rs725670 11q24.1 A G 0.38 −0.032 3.61 × 10−8 66,565 intergenic BLID novel biology −0.020 0.028 −0.011 0.172
12 90334829 rs10777212 12q21.33 T G 0.35 0.045 5.05 × 10−14 66,619 intergenic ATP2B1 calcium absorption53 0.028 0.003 0.021 0.010
12 116555786 rs73200209b 12q24.21 A T 0.80 0.045 2.51 × 10−8 51,240 intronic MED13L novel biology 0.030 0.167 0.036 0.044
13 37487021 rs556429 13q13.3 A C 0.23 0.039 1.46 × 10−8 66,504 intronic SMAD9 osteoblast differentiation54 0.023 0.027 0.013 0.135
15 38340874 rs12442242 15q14 A G 0.85 −0.051 4.94 × 10−10 66,403 intergenic TMCO5A novel biology −0.046 3.03 × 10−4 −0.047 2.26 × 10−5
15 51537806 rs2414098 15q21.2 T C 0.39 −0.033 1.99 × 10−8 66,562 intronic CYP19A1 estrogen byosynthesis55 −0.034 0.007 −0.038 0.001
15 67420680 rs1545161 15q22.33 A G 0.56 0.041 1.06 × 10−12 66,004 intronic SMAD3 osteoblast differentiation56 0.034 1.27 × 10−4 0.035 5.78 × 10−6
17 17804725 rs8070128 17p11.2 T C 0.58 −0.039 1.98 × 10−11 66,625 intronic TOM1L2 novel biology −0.033 4.80 × 10−4 −0.015 0.052
17 63771079 rs9972944 17q24.1 A G 0.41 0.036 6.87 × 10−10 66,595 intronic CEP112 novel biology 0.028 0.003 0.004 0.576
19 31654615 rs6510186c 19q12 T C 0.26 0.068 3.11 × 10−8 18,782 intergenic TSHZ3 novel biology 0.004 0.713 0.006 0.492
20 39103882 rs6029130 20q12 T C 0.30 0.035 3.50 × 10−8 66,497 intergenic MAFB osteoclast differentiation57 0.027 0.007 0.015 0.083
21 28773868 rs1452102 21q21.3 T G 0.59 −0.035 1.74 × 10−8 66,489 intergenic ADAMTS5 endochondral ossification58 −0.029 0.001 −0.015 0.056
21 36970350 rs9976876 21q22.12 T G 0.45 −0.038 8.01 × 10−11 66,514 intronic RUNX1 osteoclast differentiation59 −0.019 0.031 −0.016 0.041
21 40350744 rs11910328 21q22.2 A G 0.84 −0.043 2.99 × 10−8 66,298 intergenic ETS2 osteoblast maturation60 −0.028 0.020 −0.028 0.007

Variants associated with TB-BMD in the all-ages combined meta-analysis that map outside ±500 kb of known index SNPs of genetic associations with different bone traits. Genomic coordinates are on build 37 of the human genome. Notes refer to annotation based on the closest gene. Associations with lumbar spine (LS) and femoral neck (FN)-BMD.9 Beta coefficients and allele frequencies (EAF) are reported for the A1 allele.

aMonomorphic in European cohorts

bReported statistics from the in the meta-analysis of European populations

cReported statistics from the meta-analysis in the 30–45 age strata