Table 3.
P2X7R genotype distribution (percentage) and allele frequency of stress fracture cases and controls in military personnel and elite athletes
| All | Men | |||||
|---|---|---|---|---|---|---|
| Military | ||||||
| Stress fracture n (%) | Non-stress fracture n (%) | Stress fracture n (%) | Non-stress fracture n (%) | |||
| rs35933842 | ||||||
| GG | 36 (95) | 153 (98) | 35 (97) | 144 (97) | ||
| GT | 2 (5) | 4 (2) | 1 (3) | 4 (3) | ||
| TT | 0 | 0 | 0 | 0 | ||
| 38 | 157 | 36 | 148 | |||
| P = | 0.38 | P = | 0.98 | |||
| Allele frequency | ||||||
| G | 0.97 | 0.99 | 0.99 | 0.99 | ||
| T | 0.03 | 0.01 | 0.01 | 0.01 | ||
| P = | 0.29 | P = | 0.98 | |||
| rs17525809 | ||||||
| TT | 32 (82) | 132 (89) | 32 (84) | 123 (89) | ||
| TC | 7 (18) | 17 (11) | 6 (16) | 15 (11) | ||
| CC | 0 | 0 | 0 | 0 | ||
| 39 | 149 | 38 | 138 | |||
| P = | 0.28 | P = | 0.41 | |||
| Allele frequency | ||||||
| T | 0.91 | 0.94 | 0.92 | 0.95 | ||
| C | 0.09 | 0.57 | 0.08 | 0.05 | ||
| P = | 0.21 | P = | 0.34 | |||
| rs28360447 | ||||||
| GG | 37 (100) | 142 (99) | 35 (100) | 133 (99) | ||
| GA | 0 | 2 (1) | 0 | 2 (1) | ||
| AA | 0 | 0 | 0 | 0 | ||
| 37 | 144 | 35 | 135 | |||
| P = | 0.64 | P = | 0.47 | |||
| Allele frequency | ||||||
| G | 1.00 | 0.99 | 1.00 | 0.99 | ||
| A | 0 | 0.07 | 0 | 0.07 | ||
| P = | 0.47 | P = | 0.47 | |||
| rs208294 | ||||||
| CC | 14 (39) | 33 (28) | 13 (38) | 28 (26) | ||
| CT | 16 (44) | 63 (53) | 16 (47) | 58 (54) | ||
| TT | 6 (17) | 22 (19) | 5 (15) | 21 (20) | ||
| 36 | 118 | 34 | 107 | |||
| P = | 0.46 | P = | 0.21 | |||
| Allele frequency | ||||||
| C | 0.33 | 0.37 | 0.34 | 0.37 | ||
| T | 0.67 | 0.64 | 0.66 | 0.63 | ||
| P = | 0.41 | P = | 0.49 | |||
| rs7958311 | ||||||
| GG | 27 (75) | 60 (60) | 25 (74) | 55 (60) | ||
| GA | 8 (22) | 33 (33) | 8 (23) | 32 (35) | ||
| AA | 1 (3) | 7 (7) | 1 (3) | 4 (4) | ||
| 36 | 100 | 34 | 91 | |||
| P = | 0.16 | P = | 0.4 | |||
| Allele frequency | ||||||
| G | 0.86 | 0.77 | 0.85 | 0.78 | ||
| A | 0.10 | 0.24 | 0.15 | 0.22 | ||
| P = | 0.06 | P = | 0.14 | |||
| rs7958316 | ||||||
| GG | 35 (95) | 127 (95) | 33 (94) | 116 (94) | ||
| GA | 2 (5) | 7 (5) | 2 (6) | 7 (6) | ||
| AA | 0 | 0 | 0 | 0 | ||
| 37 | 134 | 35 | 123 | |||
| P = | 0.97 | P = | 1 | |||
| Allele frequency | ||||||
| G | 0.97 | 0.97 | 0.97 | 0.97 | ||
| A | 0.03 | 0.03 | 0.03 | 0.03 | ||
| P = | 0.96 | P = | 0.99 | |||
| rs28360457 | ||||||
| GG | 37 (100) | 158 (99) | 35 (100) | 147 (99) | ||
| GA | 0 | 2 (1) | 0 | 2 (1) | ||
| AA | 0 | 0 | 0 | 0 | ||
| 37 | 160 | 35 | 149 | |||
| P = | 0.13 | P = | 0.49 | |||
| Allele frequency | ||||||
| G | 1.00 | 0.99 | 1.00 | 0.99 | ||
| A | 0 | 0.01 | 0 | 0.01 | ||
| P = | 0.5 | P = | 0.49 | |||
| rs1718119 | ||||||
| GG | 13 (35) | 71 (48) | 12 (34) | 66 (49) | ||
| GA | 22 (60) | 50 (34) | 21 (60) | 45 (33) | ||
| AA | 2 (5) | 26 (20) | 2 (6) | 25 (18) | ||
| 37 | 147 | 35 | 136 | |||
| P = | 0.01* | P = | 0.01* | |||
| Allele frequency | ||||||
| G | 0.65 | 0.65 | 0.64 | 0.65 | ||
| A | 0.35 | 0.35 | 0.36 | 0.35 | ||
| P = | 0.94 | P = | 0.89 | |||
| rs2230911 | ||||||
| CC | 33 (89) | 114 (88) | 32 (91) | 106 (89) | ||
| CG | 4 (11) | 16 (12) | 3 (9) | 13 (11) | ||
| GG | 0 | 0 | 0 | 0 | 0 | |
| 37 | 130 | 35 | 119 | |||
| P = | 0.8 | P = | 0.69 | |||
| Allele frequency | ||||||
| C | 0.95 | 0.94 | 0.96 | 0.94 | ||
| GG | 0.05 | 0.06 | 0.04 | 0.06 | ||
| P = | 0.79 | P = | 0.66 | |||
| rs2230912 | ||||||
| AA | 27 (69) | 110 (75) | 25 (68) | 101 (75) | ||
| GA | 12 (31) | 36 (25) | 12 (32) | 34 (25) | ||
| GG | 0 | 0 | 0 | 0 | ||
| 39 | 146 | 37 | 135 | |||
| P = | 0.44 | P = | 0.38 | |||
| Allele frequency | ||||||
| A | 0.85 | 0.88 | 0.84 | 0.87 | ||
| G | 0.15 | 0.12 | 0.16 | 0.13 | ||
| P = | 0.41 | P = | 0.35 | |||
| rs3751143 | ||||||
| AA | 22 (56) | 107 (71) | 22 (60) | 97 (69) | ||
| AC | 16 (41) | 34 (22) | 15 (40) | 33 (24) | ||
| CC | 1 (3) | 10 (7) | 0 | 10 (7) | ||
| 39 | 151 | 37 | 140 | |||
| P = | 0.05* | P = | 0.04* | |||
| Allele frequency | ||||||
| A | 0.77 | 0.82 | 0.80 | 0.81 | ||
| CC | 0.23 | 0.18 | 0.20 | 0.19 | ||
| P = | 0.23 | P = | 0.77 | |||
| rs1653624 | ||||||
| TT | 36 (92) | 158 (99) | 35 (95) | 147 (99) | ||
| TA | 3 (8) | 1 (1) | 2 (5) | 1 (1) | ||
| AA | 0 | 0 | 0 | 0 | ||
| 39 | 159 | 37 | 148 | |||
| NA | NA | |||||
| Allele frequency | ||||||
| T | 0.96 | 1.00 | 0.97 | 1.00 | ||
| A | 0.04 | 0.00 | 0.03 | 0.00 | ||
| NA | NA | |||||
| Elite athletes | ||||||
| rs208294 | ||||||
| CC | 120 (98) | 348 (95) | 94 (98) | 312 (95) | ||
| CT | 2 (2) | 16 (4) | 2 (2) | 14 (4) | ||
| TT | 0 | 1 (0) | 0 | 1 (0) | ||
| 122 | 365 | 96 | 327 | |||
| P = | 0.32 | P = | 0.52 | |||
| Allele frequency | ||||||
| C | 0.98 | 0.98 | 0.99 | 0.98 | ||
| T | 0.02 | 0.03 | 0.01 | 0.02 | ||
| P = | 0.09 | P = | 0.21 | |||
| rs1718119 | ||||||
| GG | 47 (40) | 128 (38) | 36 (40) | 112 (37) | ||
| GA | 54 (47) | 147 (43) | 41 (45) | 130 (43) | ||
| AA | 15 (13) | 64 (19) | 14 (15) | 60 (20) | ||
| 116 | 339 | 91 | 302 | |||
| P = | 0.34 | P = | 0.63 | |||
| Allele frequency | ||||||
| G | 0.64 | 0.59 | 0.62 | 0.59 | ||
| A | 0.36 | 0.41 | 0.38 | 0.41 | ||
| P = | 0.18 | P = | 0.34 | |||
| rs2230912 | ||||||
| AA | 78 (67) | 243 (68) | 61 (66) | 211 (66) | ||
| GA | 37 (32) | 107 (30) | 31 (33) | 99 (31) | ||
| GG | 1 (1) | 9 (2) | 1 (1) | 9 (3) | ||
| 116 | 359 | 93 | 319 | |||
| P = | 0.53 | P = | 0.6 | |||
| Allele frequency | ||||||
| A | 0.83 | 0.83 | 0.82 | 0.82 | ||
| G | 0.17 | 0.17 | 0.18 | 0.18 | ||
| P = | 0.8 | P = | 0.34 | |||
| rs3751143 | ||||||
| AA | 75 (64) | 261 (73) | 62 (67) | 240 (76) | ||
| AC | 38 (33) | 82 (23) | 26 (28) | 65 (21) | ||
| CC | 4 (3) | 13 (4) | 4 (4) | 12 (4) | ||
| 117 | 356 | 92 | 317 | |||
| P = | 0.12 | P = | 0.27 | |||
| Allele frequency | ||||||
| A | 0.80 | 0.85 | 0.82 | 0.86 | ||
| C | 0.20 | 0.15 | 0.19 | 0.14 | ||
| P = | 0.05* | P = | 0.08 | |||
| rs1653624 | ||||||
| TT | 119 (98) | 339 (93) | 94 (99) | 303 (93) | ||
| TA | 2 (2) | 25 (7) | 1 (1) | 22 (7) | ||
| AA | 0 (0) | 0 (0) | 0 | 0 | ||
| 121 | 364 | 95 | 325 | |||
| P = | NA | P = | NA | |||
| Allele frequency | ||||||
| T | 100 | 0.97 | 0.99 | 0.97 | ||
| A | 0 | 0.03 | 0.01 | 0.03 | ||
| P = | NA | P = | NA | |||
P values are the result of comparisons between genotype and allele frequencies between the stress fracture and non-stress fracture cohorts
*Significant difference when cases were compared to controls (P < 0.05)