Background
Methods
Patients and controls
SNP identification and selection
Genotyping
Statistical methods
Results
dbSNP id | SNP name | Frequency | Location |
---|---|---|---|
rs2282611 | 5'up t>g | 0.35 | START-3136 |
rs4245443 | IVS7 g>a | 0.40 | Intron 7 +40 |
rs2513511 | IVS16 a>g | 0.14 | Intron 16 +1947 |
rs2155220 | 3'down c>t | 0.45 | END +3584 |
SNP | Series | RAF | M/M n (%) | M/m n (%) | m/m n (%) | Number genotyped | P 2 df |
---|---|---|---|---|---|---|---|
5'up t>g | Cases | 0.33 | 989 (45) | 961 (44) | 231 (11) | 2181 | |
Controls | 0.32 | 1069 (47) | 959 (42) | 249 (11) | 2277 | 0.42 | |
OR (95% CI) | 1 (ref) | 1.08 (0.96–1.23) | 1.00 (0.82–1.22) | ||||
IVS7 g>a | Cases | 0.40 | 727 (36) | 980 (48) | 317 (16) | 2024 | |
Controls | 0.40 | 803 (37) | 1025 (47) | 364 (16) | 2192 | 0.51 | |
OR (95% CI) | 1 (ref) | 1.06 (0.92–1.21) | 0.96 (0.80–1.15) | ||||
IVS16 a>g | Cases | 0.13 | 1629 (75) | 502 (23) | 36 (2) | 2167 | |
Controls | 0.14 | 1690 (75) | 526 (23) | 42 (2) | 2258 | 0.87 | |
OR (95% CI) | 1 (ref) | 0.99 (0.86–1.14) | 0.89 (0.57–1.40) | ||||
3'down c>t | Cases | 0.44 | 638 (32) | 986 (49) | 399 (20) | 2023 | |
Controls | 0.44 | 691 (31) | 1073 (49) | 440 (20) | 2204 | 0.98 | |
OR (95% CI) | 1 (ref) | 1.00 (0.87–1.14) | 0.98 (0.83–1.17) | ||||
IVS9 a>g | Cases | 0.39 | 760 (37) | 988 (48) | 299 (15) | 2047 | |
Controls | 0.39 | 847 (39) | 1009 (46) | 343 (16) | 2199 | 0.29 | |
OR (95% CI) | 1 (ref) | 1.09 (0.96–1.24) | 0.97 (0.81–1.17) | ||||
IVS10 c>t | Cases | 0.05 | 1824 (91) | 177 (9) | 3 (0) | 2004 | |
Controls | 0.04 | 1956 (91) | 187 (9) | 3 (0) | 2146 | 0.99 | |
OR (95% CI) | 1 (ref) | 1.02 (0.82–1.26) | 1.07 (0.22–5.32) |
SNP | Series | RAF | M/M n (%) | M/m n (%) | m/m n (%) | Number genotyped | P 2 df |
---|---|---|---|---|---|---|---|
5'up t>g | Cases | 0.31 | 346 (47) | 315 (43) | 69 (9) | 730 | |
Controls | 0.32 | 392 (46) | 369 (43) | 92 (11) | 853 | 0.65 | |
OR (95% CI) | 1 (ref) | 0.97 (0.79–1.19) | 0.85 (0.60–1.20) | ||||
IVS7 g>a | Cases | 0.40 | 222 (37) | 289 (48) | 95 (16) | 606 | |
Controls | 0.40 | 304 (36) | 405 (48) | 140 (16) | 849 | 0.90 | |
OR (95% CI) | 1 (ref) | 0.98 (0.78–1.23) | 0.93 (0.68–1.27) | ||||
IVS16 a>g | Cases | 0.14 | 479 (74) | 164 (25) | 6 (1) | 649 | |
Controls | 0.13 | 652 (76) | 188 (22) | 13 (2) | 853 | 0.22 | |
OR (95% CI) | 1 (ref) | 1.19 (0.93–1.51) | 0.63 (0.24–1.66) | ||||
3'down c>t | Cases | 0.44 | 219 (30) | 370 (51) | 141 (19) | 730 | |
Controls | 0.43 | 283 (33) | 412 (48) | 159 (19) | 854 | 0.41 | |
OR (95% CI) | 1 (ref) | 1.16 (0.93–1.45) | 1.15 (0.86–1.53) | ||||
IVS9 a>g | Cases | 0.39 | 319 (37) | 398 (47) | 134 (16) | 851 | |
Controls | 0.39 | 327 (38) | 402 (47) | 133 (15) | 862 | 0.97 | |
OR (95% CI) | 1 (ref) | 1.01 (0.82–1.25) | 1.03 (0.78–1.37) | ||||
IVS10 c>t | Cases | 0.04 | 778 (92) | 68 (8) | 0 (0) | 846 | |
Controls | 0.05 | 776 (91) | 77 (9) | 2 (0) | 855 | 0.29 | |
OR (95% CI) | 1 (ref) | 0.88 (0.63–1.24) | - |