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. 2020 Jun 16;11:551. doi: 10.3389/fgene.2020.00551

Table 4.

Summary effects from the overall analyses of case-control association studies for genetic variants associated with fracture occurrence risk in physically active participants including only good and moderate quality studies with sex sub-groups.

Genetic variant and risk comparison model Sample size Test of Heterogeneity Test of overall association
Participants Studies Overall Between sub-groups FE/RE OR (95% CI) P
Fracture/Control (risk model frequency) I2 P I2 P
COL1A1 Sp1 (rs1800012)
Allele Contrast: T 561 (21%)/1,878 (21%) 3 36% 0.20 57% 0.10 RE 0.95 (0.66–1.36) 0.77
Recessive: TT+TG 333 (33%)/1,101 (33%) 3 33% 0.22 54% 0.11 RE 0.96 (0.65–1.42) 0.84
Homozygote Contrast: TT 333 (1.8%)/1,101 (3%) 3 0% 0.53 0% 0.47 FE 0.73 (0.28–1.91) 0.53
VDR BsmI (rs1544410)
Allele Contrast: T 179 (68%)/1,405 (77%) 2 41% 0.18 0% 0.93 RE 0.96 (0.59–1.56) 0.87
Recessive: TT+TG 118 (75%)/915 (83%) 2 0% 0.45 0% 0.90 FE 1.00 (0.62–1.62) 1.00
Homozygote Contrast: TT 118 (27%)/915 (36%) 2 0% 0.39 0% 0.45 FE 0.93 (0.59–1.47) 0.75

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. Values in bold indicate significant heterogeneity and/or associations with fracture risk.