Ethnic/population group | n | Genotype frequency (n) | HWE | Allele frequency (%) | p-value | Reference No. | |||
---|---|---|---|---|---|---|---|---|---|
MTHFR 1298 | Â | A/A | A/C | C/C | Â | A | C | Â | Â |
 Japanese (Our study) | 299 | 206 (68.9) | 84 (28.1) | 9 (3.0) | 0.902 | 83 | 17 |  |  |
 Japanese | 477 | 316 (66.3) | 146 (30.6) | 15 (3.1) | 0.707 | 82 | 18 | 0.7430 | |
 Asian | 176 | 114 (64.8) | 54 (30.7) | 8 (4.5) | 0.623 | 80 | 20 | 0.5310 | [4] |
 Caucasian | 1315 | 636 (48.3) | 548 (41.7) | 131 (10.0) | 0.418 | 69 | 31 | < 0.0001 | |
 African | 346 | 270 (78.0) | 74 (21.4) | 2 (0.6) | 0.198 | 89 | 11 | 0.0060 | [4] |
TYMS 3'-UTR |  | −6/−6 | −6/+6 | +6/+6 |  | −6 | +6 |  |  |
 Japanese (Our study) | 299 | 127 (42.5) | 137 (45.8) | 35 (11.7) | 0.833 | 65 | 35 |  |  |
 Japanese | 239 | 106 (44.4) | 114 (47.7) | 19 (7.9) | 0.123 | 68 | 32 | 0.3540 | |
RFC1 80 | Â | G/G | G/A | A/A | Â | G | A | Â | Â |
 Japanese (Our study) | 299 | 52 (17.4) | 155 (51.8) | 92 (30.8) | 0.336 | 43 | 57 |  |  |
 Japanese | 472 | 90 (19.1) | 228 (48.3) | 154 (32.6) | 0.731 | 43 | 57 | 0.6260 | |
 Asian | 168 | 46 (27.4) | 76 (45.2) | 46 (27.4) | 0.217 | 50 | 50 | 0.0390 | [4] |
 Caucasian | 1203 | 363 (30.2) | 585 (48.6) | 255 (21.2) | 0.498 | 55 | 45 | < 0.0001 | |
 African | 249 | 33 (13.3) | 92 (36.9) | 124 (49.8) | 0.020 | 32 | 68 | < 0.0001 | |
RFC1−43 |  | T/T | T/C | C/C |  | T | C |  |  |
 Japanese (Our study) | 299 | 52 (17.4) | 155 (51.8) | 92 (30.8) | 0.336 | 43 | 57 |  |  |
 Japanese | 172 | 34 (19.8) | 84 (48.8) | 54 (31.4) | 0.897 | 44 | 56 | 0.7623 | [4] |
 Asian | 164 | 44 (26.8) | 78 (47.6) | 42 (25.6) | 0.533 | 51 | 49 | 0.0520 | [4] |
 Caucasian | 226 | 64 (28.3) | 128 (56.6) | 34 (15.1) | 0.021 | 57 | 43 | < 0.0001 | [4] |
 African | 220 | 20 (9.1) | 82 (37.3) | 118 (53.7) | 0.299 | 28 | 72 | < 0.0001 | [4] |
FPGS 1994 | Â | G/G | G/A | A/A | Â | G | A | Â | Â |
 Japanese (Our study) | 299 | 140 (46.8) | 128 (42.8) | 31 (10.4) | 0.828 | 68 | 32 |  |  |
 Japanese | 170 | 74 (43.5) | 74 (43.5) | 22 (13.0) | 0.606 | 65 | 35 | 0.6390 | [4] |
 Asian | 630 | 315 (50.0) | 251 (39.8) | 64 (10.2) | 0.185 | 70 | 30 | 0.6490 | |
 Caucasian | 226 | 30 (13.3) | 104 (46.0) | 92 (40.7) | 0.943 | 36 | 64 | < 0.0001 | [4] |
 African | 226 | 34 (15.0) | 118 (52.2) | 74 (32.8) | 0.241 | 41 | 59 | < 0.0001 | [4] |
GGH 452 | Â | C/C | C/T | T/T | Â | C | T | Â | Â |
 Japanese (Our study) | 299 | 249 (83.3) | 47 (15.7) | 3 (1.0) | 0.641 | 91 | 9 |  |  |
 Japanese | 525 | 426 (81.1) | 96 (18.3) | 3 (0.6) | 0.331 | 90 | 10 | 0.5180 | |
 Asian | 564 | 453 (80.3) | 104 (18.5) | 7 (1.2) | 0.710 | 90 | 10 | 0.5680 | |
 Caucasian | 209 | 155 (74.2) | 49 (23.4) | 5 (2.4) | 0.633 | 86 | 14 | 0.0350 | |
 African | 332 | 284 (85.5) | 44 (13.3) | 4 (1.2) | 0.135 | 92 | 8 | 0.6650 | [4] |
GGH−401 |  | C/C | C/T | T/T |  | C | T |  |  |
 Japanese (Our study) | 299 | 175 (58.5) | 110 (36.8) | 14 (4.7) | 0.531 | 77 | 23 |  |  |
 Japanese | 86 | 34 (39.5) | 42 (48.8) | 10 (11.7) | 0.583 | 64 | 36 | 0.0031 | [4] |
 Asian | 90 | 54 (60.0) | 32 (35.6) | 4 (4.4) | 0.786 | 78 | 22 | 0.9690 | [4] |
 Caucasian | 120 | 54 (45.0) | 58 (48.3) | 8 (6.7) | 0.145 | 69 | 31 | 0.0421 | [4] |
 African | 120 | 90 (75.0) | 26 (21.7) | 4 (3.3) | 0.232 | 86 | 14 | 0.0053 | [4] |
ABCB1 3435 | Â | C/C | C/T | T/T | Â | C | T | Â | Â |
 Japanese (Our study) | 299 | 94 (31.4) | 156 (52.2) | 49 (16.4) | 0.242 | 58 | 42 |  |  |
 Japanese | 716 | 239 (33.4) | 357 (49.9) | 120 (16.7) | 0.494 | 58 | 42 | 0.7850 | |
 Asian | 84 | 32 (38.1) | 34 (40.5) | 18 (21.4) | 0.125 | 58 | 42 | 0.1606 | [4] |
 Caucasian | 226 | 34 (15.0) | 126 (55.8) | 66 (29.2) | 0.038 | 43 | 57 | < 0.0001 | [4] |
 African | 226 | 178 (78.8) | 46 (20.4) | 2 (0.8) | 0.605 | 89 | 11 | < 0.0001 | [4] |
ABCC2 IVS23 + 56 |  | T/T | T/C | C/C |  | T | C |  |  |
 Japanese (Our study) | 299 | 25 (8.4) | 103 (34.4) | 171 (57.2) | 0.099 | 26 | 74 |  |  |
 Japanese | 172 | 6 (3.5) | 64 (37.2) | 102 (59.3) | 0.289 | 22 | 78 | 0.0971 | [4] |
 Asian | 86 | 4 (4.7) | 44 (51.1) | 38 (44.2) | 0.048 | 30 | 70 | 0.0174 | [4] |
 Caucasian | 226 | 28 (12.4) | 104 (46.0) | 94 (41.6) | 0.926 | 35 | 65 | 0.0018 | [4] |
 African | 226 | 4 (1.8) | 88 (38.9) | 134 (59.3) | 0.014 | 21 | 79 | 0.0020 | [4] |
ABCG2 914 | Â | C/C | C/A | A/A | Â | C | A | Â | Â |
 Japanese (Our study) | 299 | 166 (55.5) | 111 (37.1) | 22 (7.4) | 0.565 | 74 | 26 |  |  |
 Japanese | 4240 | 1999 (47.1) | 1827 (43.1) | 414 (9.8) | 0.908 | 69 | 31 | 0.0170 | |
 Asian | 176 | 90 (51.1) | 70 (39.8) | 16 (9.1) | 0.655 | 71 | 29 | 0.6020 | [4] |
 Caucasian | 346 | 272 (78.6) | 70 (20.2) | 4 (1.2) | 0.831 | 89 | 11 | < 0.0001 | [4] |
 African | 344 | 342 (99.4) | 2 (0.6) | 0 (0) | 0.957 | 100 | 0 | < 0.0001 | [4] |