Table 7 Genotype and allele frequencies of selected SNPs in case and control groups. The five TGFB1 SNPs were selected on the basis of previous publications [23-27]. The remaining two TGFBR2 SNPs were selected from potentially functional SNPs identified through screening the gene as summarised in Table 1. Data are n (%)
SNP | Genotype | Case | Control | pvalue | Allele | Case | Control | pvalue |
|---|---|---|---|---|---|---|---|---|
TGFB1 -800G>A | GG | 188 (69.1) | 268 (73.0) | 0.56 | G | 454 (83.5) | 628 (85.6) | 0.30 |
GA | 78 (28.7) | 92 (25.1) | ||||||
AA | 6 (2.2) | 7 (1.9) | A | 90 (16.5) | 106 (14.4) | |||
TGFB1 -509C>T | CC | 179 (65.8) | 245 (66.8) | 0.62 | C | 442 (81.3) | 595 (81.1) | 0.93 |
CT | 84 (30.9) | 105 (28.6) | ||||||
TT | 9 (3.3) | 17 (4.6) | T | 102 (18.7) | 139 (18.9) | |||
TGFB1 +72InsC | - C | 221 (81.3) | 301 (82.0) | 0.88 | - C | 488 (89.7) | 663 (90.3) | 0.71 |
+/- C | 46 (16.9) | 61 (16.6) | ||||||
+ C | 5 (1.8) | 5 (1.4) | +C | 56 (10.3) | 71 (9.7) | |||
TGFB1 +869T>C | TT | 151 (55.5) | 204 (55.6) | 0.86 | T | 403 (74.1) | 540 (73.6) | 0.84 |
TC | 101 (37.1) | 132 (36.0) | ||||||
CC | 20 (7.4) | 31 (8.4) | C | 141 (25.9) | 194 (26.4) | |||
TGFB1 +915G>C | GG | 219 (80.5) | 298 (81.2) | 0.98 | G | 488 (89.7) | 661 (90.1) | 0.84 |
GC | 50 (18.4) | 65 (17.7) | ||||||
CC | 3 (1.1) | 4 (1.1) | C | 56 (10.3) | 73 (9.9) | |||
a TGFBR2 c.*747C>G | CC | 218 (90.5) | 287 (89.1) | 0.88 | C | 457 (94.8) | 606 (94.1) | 0.61 |
CG | 21 (8.7) | 32 (9.9) | ||||||
GG | 2 (0.8) | 3 (0.9) | G | 25 (5.2) | 38 (5.9) | |||
a TGFBR2 c.1149G>A | GG | 232 (96.3) | 317 (98.4) | 0.10 | G | 473 (98.1) | 639 (99.2) | 0.10 |
GA | 9 (3.7) | 5 (1.6) | ||||||
AA | 0 | 0 | A | 9 (1.9) | 5 (0.8) |