Table 2.
SNP | Allele | MAF (%) | Type | Skeletal site | Phenotype | Adjusted for center | Adjusted for center, age, weight, and height | Associations with other bone phenotypes in EMAS [15]a | ||
---|---|---|---|---|---|---|---|---|---|---|
β (95% CI) | P | β (95% CI) | P | |||||||
rs9962159 | A>G | 27.5 | Intronic | Distal radius | Total vBMD | −8.33 (−16.29 to −0.38) | 0.041 | −8.55 (−16.16 to −0.93) | 0.028 | – |
rs12956925 | G>A | 16.7 | Intronic | Distal radius | Trabecular vBMD | −6.79 (−13.22 to −0.36) | 0.039 | −7.58 (−14.01 to −1.15) | 0.021 | – |
rs9951012 | G>A | 20.8 | Intronic | Distal radius | Cross-sectional area | −9.28 (−17.87 to −0.69) | 0.035 | −10.23 (−18. 42 to −2.03) | 0.015 | – |
rs4524035 | A>G | 14.3 | Intronic | Distal radius | Trabecular vBMD | −8.59 (−16.30 to −0.87) | 0.030 | −8.35 (−16.09 to −0.60) | 0.035 | – |
rs8083511 | A>C | 20.1 | Intronic | Distal radius | Cross-sectional area | 10.39 (2.05 to 18.73) | 0.015 | 8.90 (0.92 to 16.88) | 0.029 | – |
rs12959396 | T>G | 47.1 | Intronic | Mid-shaft radius | Cortical thickness | 0.05 (0.00 to 0.10) | 0.046 | 0.06 (0.01 to 0.10) | 0.026 | – |
Mid-shaft radius | Medullary area | −2.31 (−4.36 to −0.26) | 0.028 | −1.87 (−3.85 to 0.12) | 0.065 | – | ||||
rs6567276 | T>C | 44.2 | Intronic | Distal radius | Cross-sectional area | −7.50 (−14.35 to −0.65) | 0.032 | −8.42 (−14.97 to −1.87) | 0.012 | PINP ↑, CTX-I ↑ |
rs17665435 | T>A | 32.3 | 3′ downstream | Distal radius | Cross-sectional area | 7.44 (0.52 to 14.36) | 0.036 | 8.21 (1.58 to 14.83) | 0.015 | PINP ↓, CTX-I ↓ |
β the change in the mean of the outcome variable (in units e.g. mg/mm3) for each copy of the minor allele, CI confidence interval, EMAS European Male Ageing Study, PINP N-terminal propeptide of procollagen I, CTX-I C-terminal cross-linked telopeptide of collagen type I, ↑ the SNP was associated with higher levels of the outcome, ↓ the 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