Table 3. Polymorphisms identified in the VEGF gene through sequencing analysis of the three detection samples.
Polymorphism | Chromosome position | Gene location | Type | Minor Allele Frequency | ||
Campora (N = 42) | Gioi (N = 49) | Cardile (N = 45) | ||||
new1 | 43735909 | Promoter | A/G | A = 0.00 | A = 0.01 | A = 0.00 |
rs12208152 | 43735980 | Promoter | C/T | T = 0.01 | T = 0.01 | T = 0.00 |
new2 | 43736121 | Promoter | A/C | C = 0.00 | C = 0.00 | C = 0.03 |
rs699947 | 43736389 | Promoter | A/C | A = 0.41 | A = 0.43 | A = 0.44 |
rs35569394 | 43736418 | Promoter | Ins/Del 18 bp | Ins = 0.41 | Ins = 0.44 | Ins = 0.44 |
rs1005230 | 43736496 | Promoter | C/T | T = 0.41 | T = 0.44 | T = 0.44 |
rs35864111 | 43736537 | Promoter | –/G | – = 0.41 | – = 0.44 | – = 0.44 |
new3 | 43736625 | Promoter | A/G | A = 0.00 | A = 0.01 | A = 0.00 |
rs36208049 | 43736679 | Promoter | G/T | T = 0.06 | T = 0.05 | T = 0.09 |
rs36208048 | 43736829 | Promoter | A/C | A = 0.01 | A = 0.01 | A = 0.00 |
rs36208050 | 43736894 | Promoter | _/G | G = 0.01 | G = 0.01 | G = 0.00 |
new4 | 43736938 | Promoter | C/T | T = 0.00 | T = 0.00 | T = 0.01 |
new5 | 43737384 | Promoter | C/T | T = 0.00 | T = 0.00 | T = 0.01 |
rs833061 | 43737486 | Promoter | C/T | T = 0.42 | T = 0.50 | T = 0.50 |
rs833062 | 43737529 | Promoter | C/T | C = 0.02 | C = 0.01 | C = 0.00 |
rs57743727 | 43737698 | Promoter | AG/_ | – = 0.00 | – = 0.00 | – = 0.03 |
rs59260042 | 43737774 | Promoter | A/C | A = 0.00 | A = 0.01 | A = 0.00 |
new6 | 43737781 | Promoter | C/T | T = 0.00 | T = 0.00 | T = 0.02 |
new7 | 43737786 | Promoter | C/T | T = 0.00 | T = 0.01 | T = 0.00 |
rs13207351 | 43737794 | Promoter | A/G | G = 0.42 | G = 0.50 | G = 0.50 |
rs28357093 | 43737805 | Promoter | A/C | C = 0.00 | C = 0.00 | C = 0.02 |
rs1570360 | 43737830 | Promoter | A/G | G = 0.46 | A = 0.39 | A = 0.32 |
rs36208384 | 43737909 | Promoter | A/C | A = 0.00 | A = 0.00 | A = 0.02 |
new8 | 43737983 | 5'UTR | C/G | C = 0.00 | C = 0.02 | C = 0.02 |
rs2010963 | 43738350 | 5'UTR | C/G | C = 0.43 | C = 0.35 | C = 0.40 |
rs25648 | 43738977 | 5'UTR | C/T | T = 0.08 | T = 0.08 | T = 0.20 |
rs56302402 | 43741957 | intron 1 | A/T | T = 0.00 | T = 0.03 | T = 0.03 |
new9 | 43742166 | intron 2 | A/C | A = 0.00 | A = 0.00 | A = 0.01 |
rs865577 | 43742419 | intron 2 | G/T/C | T = 0 C = 0.19 | T = 0 C = 0.30 | T = 0 C = 0.38 |
rs833068 | 43742527 | intron 2 | A/G | A = 0.44 | A = 0.35 | A = 0.44 |
rs833070 * | 43742626 | intron 2 | C/T | T = 0.40 | T = 0.41 | T = 0.44 |
rs2146323 | 43745095 | intron 2 | A/C | A = 0.33 | A = 0.19 | A = 0.28 |
rs3024997 | 43745107 | intron 2 | A/G | A = 0.41 | A = 0.32 | A = 0.41 |
rs3025046 | 43745452 | intron 3 | C/G | G = 0.00 | G = 0.01 | G = 0.00 |
rs3024998 | 43745577 | intron 3 | C/T | T = 0.42 | T = 0.34 | T = 0.42 |
rs3025000 | 43746169 | intron 3 | C/T | T = 0.32 | T = 0.27 | T = 0.36 |
rs3025047 | 43746410 | intron 4 | C/T | T = 0.00 | T = 0.00 | T = 0.02 |
new10 | 43748302 | intron 5 | A/G | A = 0.01 | A = 0.00 | A = 0.00 |
rs3025015 | 43748350 | intron 5 | A/G | A = 0.00 | A = 0.03 | A = 0.01 |
rs3025017 | 43748357 | intron 5 | A/G | A = 0.12 | A = 0.08 | A = 0.08 |
new11 | 43748449 | intron 5 | TC/_ | – = 0.00 | – = 0.00 | – = 0.01 |
rs3025052 | 43748643 | intron 6 | C/T | T = 0.01 | T = 0.02 | T = 0.07 |
rs3025018 | 43748795 | intron 6 | C/G/T | G = 0.08 T = 0.08 | G = 0.05 T = 0.09 | G = 0.02 T = 0.11 |
rs3025020 * | 43749110 | intron 6 | C/T | T = 0.46 | T = 0.26 | T = 0.22 |
new12 | 43752397 | 3'UTR | C/T | T = 0.02 | T = 0.00 | T = 0.02 |
new13 | 43752518 | 3'UTR | C/T | T = 0.01 | T = 0.00 | T = 0.00 |
rs3025039 | 43752536 | 3'UTR | C/T | T = 0.14 | T = 0.12 | T = 0.18 |
new14 | 43752596 | 3'UTR | A/G | A = 0.00 | A = 0.01 | A = 0.00 |
new15 | 43752607 | 3'UTR | A/G | A = 0.00 | A = 0.00 | A = 0.02 |
new16 | 43753005 | 3'UTR | A/G | A = 0.01 | A = 0.00 | A = 0.00 |
rs3025040 | 43753051 | 3'UTR | C/T | T = 0.13 | T = 0.11 | T = 0.18 |
rs10434 | 43753212 | 3'UTR | A/G | A = 0.24 | A = 0.38 | G = 0.49 |
new17 | 43753292 | 3'UTR | C/T | T = 0.00 | T = 0.00 | T = 0.01 |
rs3025053 | 43753325 | 3'UTR | A/G | A = 0.07 | A = 0.06 | A = 0.08 |
rs41282644 | 43753722 | 3'UTR | A/G | A = 0.00 | A = 0.07 | A = 0.10 |
new18 | 43753882 | 3'UTR | A/G | G = 0.00 | G = 0.01 | G = 0.00 |
The 26 polymorphisms having a MAF>5% in at least one of the samples are reported in bold. New SNPs, not reported in the NCBI, are denoted “new”. Two SNPs (*), already available from previous studies and located outside the sequencing region, were included in the study.