Table 3.
OPG (TNFRSF11B) SNPs associated with pQCT outcomes
| SNP | Allele | MAF (%) | Type | Skeletal site | Phenotype | Adjusted for center | Adjusted for center, age, weight, and height | Associations with the other bone phenotypes in EMAS [15]a | ||
|---|---|---|---|---|---|---|---|---|---|---|
| β (95% CI) | P | β (95% CI) | P | |||||||
| rs6993813 | C>T | 45.9 | 5′ upstream | Mid-shaft radius | Cortical vBMD | 4.29 (0.72 to 7.86) | 0.019 | 3.93 (0.47 to 7.39) | 0.026 | PINP ↓, CTX-I ↓ |
| rs6469804 | A>G | 43.9 | 5′ upstream | Mid-shaft radius | Cortical vBMD | 4.36 (0.76 to 7.95) | 0.018 | 4.25 (0.76 to 7.73) | 0.017 | PINP ↓, CTX-I ↓ |
| rs10505348 | C>T | 44.5 | 5′ upstream | Distal radius | Total vBMD | 7.89 (0.34 to 15.44) | 0.041 | 9.35 (2.12 to 16.58) | 0.011 | PINP ↓, CTX-I ↓ |
| Mid-shaft radius | Cortical vBMD | 5.69 (2.08 to 9.31) | 0.002 | 5.62 (2.10 to 9.14) | 0.002 | – | ||||
| Mid-shaft radius | Cortical thickness | 0.06 (0.01 to 0.11) | 0.026 | 0.08 (0.03 to 0.13) | 0.002 | – | ||||
| Mid-shaft radius | Medullary area | −2.33 (−4.45 to −0.21) | 0.031 | −2.90 (−4.94 to −0.86) | 0.005 | – | ||||
| rs3102735 | T>C | 14.5 | 5′ upstream | Mid-shaft radius | SSI | 11.23 (0.95 to 21.51) | 0.033 | 8.83 (−0.96 to 18.61) | 0.077 | – |
| rs2073617 | G>A | 49.3 | 5′ UTR | Distal radius | Total vBMD | −9.00 (−16.27 to −1.73) | 0.016 | −9.82 (−16.76 to −2.88) | 0.006 | CTX-I ↑ |
| Mid-shaft radius | Cortical vBMD | −4.95 (−8.44 to −1.45) | 0.006 | −4.87 (−8.26 to −1.48) | 0.005 | – | ||||
| rs2073618 | G>C | 47.3 | Nonsynonymous | Mid-shaft radius | Cortical vBMD | −3.78 (−7.38 to −0.18) | 0.040 | −4.30 (−7.78 to −0.82) | 0.015 | PINP ↑, CTX-I ↑ |
| Lys>Asp | Mid-shaft radius | Cortical thickness | −0.07 (−0.12 to −0.01) | 0.012 | −0.08 (−0.13 to −0.03) | 0.001 | LS BMD a ↓ | |||
| rs3134058 | G>A | 40.8 | Intronic | Distal radius | Total vBMD | −7.58 (−14.87 to −0.29) | 0.042 | −9.61 (−16.55 to −2.66) | 0.007 | CTX-I ↑, LS BMD a ↓ |
| Mid-shaft radius | Cortical thickness | −0.05 (−0.10 to 0.00) | 0.046 | −0.06 (−0.11 to 0.01) | 0.014 | – | ||||
| rs3134057 | A>G | 38.9 | Intronic | Mid-shaft radius | Cortical vBMD | −3.77 (−7.37 to −0.17) | 0.041 | −4.21 (−7.70 to −0.73) | 0.018 | CTX-I ↑, LS BMD a ↓ |
| rs1032129 | A>C | 34.8 | Intronic | Mid-shaft radius | Cortical vBMD | −4.65 (−8.33 to −0.98) | 0.013 | −4.20 (−7.77 to −0.63) | 0.021 | – |
| rs1032128 | G>A | 27.3 | Intronic | Mid-shaft radius | Cortical thickness | −0.06 (−0.12 to −0.01) | 0.033 | −0.07 (−0.12 to −0.01) | 0.016 | PINP ↑ |
| rs3102724 | G>A | 35.1 | Intronic | Distal radius | Total vBMD | −8.00 (−15.65 to −0.35) | 0.041 | −10.36 (−17.65 to −3.07) | 0.005 | CTX-I ↑, LS BMD a ↓ |
| rs4876868 | G>A | 17.3 | 3′ downstream | Mid-shaft radius | SSI | 12.20 (2.18 to 22.22) | 0.017 | 12.48 (3.02 to 21.95) | 0.010 | CTX-I ↑ |
| rs4355801 | A>G | 46.2 | 3′ downstream | Mid-shaft radius | Cortical vBMD | 5.39 (1.76 to 9.02) | 0.004 | 5.05 (1.51 to 8.59) | 0.005 | PINP ↓, CTX-I ↓ |
| Mid-shaft radius | SSI | −8.64 (−16.47 to −0.81) | 0.031 | −8.38 (−15.74 to −1.01) | 0.026 | – | ||||
β change in the mean of the outcome variable (in units, mg/mm3) for each copy of the minor allele, UTR untranslated region, LS lumbar spine, ↑ SNP was associated with higher levels of the outcome, ↓ SNP was associated with lower levels of the outcome
aOutcomes shown in bold were also significantly associated with the SNP in the subpopulation with pQCT