Table 5.
Summary effects of case-control association studies for genetic variants associated with fracture occurrence risk in physically active males only.
| Genetic variant and risk comparison model | Sample size | Test of heterogeneity | Test of sub-group association | ||||
|---|---|---|---|---|---|---|---|
| Participants | Studies | Within sub-group | FE/RE | OR (95% CI) | P | ||
| Fracture/Control (risk model frequency) | I2 | P | |||||
| COL1A1 Sp1(rs1800012) | |||||||
| Allele Contrast: T | 362 (17%)/1,960 (19%) | 3 | 0% | 0.99 | FE | 0.96 (0.70–1.31) | 0.80 |
| Recessive: TT+TG | 208 (28%)/1,138 (30%) | 3 | 0% | 0.93 | FE | 0.97 (0.68–1.37) | 0.85 |
| Homozygote Contrast: TT | 208 (2%)/1,138 (3%) | 3 | 0% | 0.43 | FE | 0.87 (0.28–2.70) | 0.81 |
| CTR (rs1801197) | |||||||
| Allele Contrast: T | 271 (90%)/706 (89%) | 2 | 12% | 0.29 | FE | 1.27 (0.80–2.08) | 0.30 |
| Recessive: TT+TC | 163 (92%)/442 (91%) | 2 | 0% | 0.38 | FE | 1.22 (0.62–2.38) | 0.51 |
| Homozygote Contrast: TT | 163 (58%)/442 (51%) | 2 | 4% | 0.31 | FE | 1.35 (0.94–1.95) | 0.11 |
| ESR1 PvuII (rs2234693) | |||||||
| Allele Contrast: C | 83 (81%)/1,294 (73%) | 2 | 0% | 0.99 | FE | 1.53 (0.80–2.91) | 0.14 |
| Recessive: CC+CT | 54 (85%)/849 (80%) | 2 | 0% | 0.96 | FE | 1.48 (0.69–3.20) | 0.32 |
| Homozygote Contrast: CC | 54 (39%)/849 (32%) | 2 | 48% | 0.14 | FE | 1.32 (0.75–2.32) | 0.34 |
| ESR1 XbaI (rs9340799) | |||||||
| Allele Contrast: G | 85 (91%)/1,351 (87%) | 2 | 84% | 0.01 | RE | 0.92 (0.13–6.62) | 0.96 |
| Recessive: GG+GA | 54 (93%)/849 (90%) | 2 | 67% | 0.08 | RE | 0.96 (0.15–6.36) | 0.97 |
| Homozygote Contrast: GG | 54 (50%)/849 (44%) | 2 | 38% | 0.21 | RE | 0.93 (0.43–2.01) | 0.86 |
| LRP5 (rs3736228) | |||||||
| Allele Contrast: T | 303 (12%)/798 (12%) | 2 | 0% | 0.69 | FE | 1.14 (0.75–1.72) | 0.54 |
| Recessive: TT+TC | 169 (21%)/443 (21%) | 2 | 0% | 0.73 | FE | 1.16 (0.75–1.81) | 0.50 |
| Homozygote Contrast: TT | 169 (0.6%)/443 (1.1%)* | 2* | N/A | N/A | N/A | N/A | N/A |
| VDR FokI (rs10735810) | |||||||
| Allele Contrast: C | 304 (59%)/710 (49%) | 3 | 80% | 0.006 | RE | 1.42 (0.64–3.15) | 0.39 |
| Recessive: CC+CT | 194 (68%)/454 (60%) | 3 | 68% | 0.04 | RE | 1.32 (0.59–2.95) | 0.50 |
| Homozygote Contrast: CC | 194 (25%)/454 (17%) | 3 | 0% | 0.51 | FE | 1.47 (0.95–2.28) | 0.09 |
| VDR ApaI (rs7975232) | |||||||
| Allele Contrast: C | 191 (71%)/531 (71%) | 2 | 0% | 0.68 | FE | 1.03 (0.71–1.50) | 0.86 |
| Recessive: CC+CA | 127 (78%)/347 (76%) | 2 | 0% | 0.64 | FE | 1.08 (0.65–1.78) | 0.78 |
| Homozygote Contrast: CC | 127 (28%)/347 (31%) | 2 | 0% | 0.47 | FE | 0.82 (0.52–1.30) | 0.40 |
| VDR TaqI (rs731236) | |||||||
| Allele Contrast: C | 295 (47%)/719 (48%) | 3 | 43% | 0.17 | RE | 0.96 (0.65–1.44) | 0.85 |
| Recessive: CC+CT | 193 (60%)/470 (60%) | 3 | 25% | 0.27 | RE | 0.96 (0.63–1.47) | 0.85 |
| Homozygote Contrast: CC | 193 (12%)/470 (13%) | 3 | 0% | 0.70 | FE | 0.90 (0.54–1.52) | 0.70 |
| VDR BsmI (rs1544410) | |||||||
| Allele Contrast: T | 313 (61%)/1,780 (70%) | 4 | 67% | 0.03 | RE | 0.89 (0.54–1.48) | 0.65 |
| Recessive: TT+TG | 213 (71%)/1,162 (77%) | 4 | 30% | 0.23 | RE | 1.00 (0.64–1.56) | 0.98 |
| Homozygote Contrast: TT | 213 (18%)/1,162 (30%) | 4 | 47% | 0.13 | RE | 0.84 (0.47–1.50) | 0.54 |
RE, random effects; FE, fixed effects; OR, odds ratio; CI, confidence interval. Sample size describes frequency of case and control counts for each model with risk variant frequency in parentheses.
*
LRP5 (rs3736228) TT homozygotes present in only one of the two included studies. Values in bold indicate significant heterogeneity and/or associations with fracture risk.