Table 3.
SNPs analyzed in the cohort of patients with advanced thyroid carcinoma.
| Gene | Polymorphism | Type of SNP (Ensembl Database) |
Observed Allele Frequency in Our Cohort (%) |
Allele Frequency in the European Population (%) |
Genotype (n = 18) |
|---|---|---|---|---|---|
| CYP3A4 | rs2687116 | Intronic | A: 94.4 C: 5.6 |
A: 97 C: 3 |
AA: 16 AC: 2 CC: 0 |
| rs2242480 | Intronic | G: 91.7 A: 8.3 |
G: 92 A:8 |
GG: 16 GA: 1 AA: 1 |
|
| CYP3A5 | rs776746 | Splice acceptor variant | C: 86.2 T: 13.8 |
C: 94 T:6 |
CC: 15 CT: 1 TT: 2 |
| ABCB1 | rs2032582 | p.S893A | G: 55.5 T: 44.5 |
G: 59 T: 41 |
GG: 4 GT: 12 TT: 2 |
| rs1045642 | p.Ile1145Met | T: 41.6 C: 58.4 |
T: 52 C: 48 |
CC: 5 CT: 11 TT: 2 |
|
| rs2235048 | Intronic | C: 38.9 T: 61.1 |
C: 52 T: 48 |
CC: 2 CT: 10 TT: 6 |
|
| ABCG2 | rs2231142 | p.Gln141Glu | C: 88.9 A: 11.1 |
C: 91 A: 9 |
CC: 14 CA: 4 AA: 0 |
The results are detailed below.