Table 2.
Genetic polymorphisms of the CYP2C9 gene in 36 patients who required for low warfarin dose*
| Subject number (n) | |||||||
|---|---|---|---|---|---|---|---|
| Site | Nucleotide change and position† | Amino acid change | Nucleotide changeand flanking sequence | w/w | w/m | m/m | Allelic frequency (95%CI) |
| 5-UTR | -3089G>A | TGATTCCAACC(G/A)TATTACATTTTG | 23 | 9 | 4 | 0.24 (0.097, 0.375) | |
| 5-UTR | -2665∼-2664delTG | TCAGTGAC(DEL/TG)TGGAGGGCTTAA | 23 | 9 | 4 | 0.24 (0.097, 0.375) | |
| 5-UTR | -1924A>G‡ | GTTTCATGAGTC(A/G)GGGACCAAGTT | 35 | 0 | 1 | 0.03 (0, 0.082) | |
| 5-UTR | -1565C>T§ | GCTTCCTCATTC(C/T)GGAAATGGGTC | 26 | 9 | 1 | 0.15 (0.035, 0.27) | |
| 5-UTR | -1322T>C‡ | AAGTATTGACAT(T/C)AATGATCTAGTA | 35 | 1 | 0 | 0.01 (0, 0.052) | |
| 5-UTR | -1188T>C§ | ACCTCCCATCTT(T/C)TATTGCATCCAC | 14 | 16 | 6 | 0.39 (0.23, 0.548) | |
| Intron | IVS1+83T>C | CCTAGAGGTACA(T/C)GTTACAAGAGG | 34 | 2 | 0 | 0.03 (0, 0.082) | |
| Intron | IVS1+125T>C‡ | CTTTGAAAGGCT(T/C)TTGTTGCCTTTT | 35 | 1 | 0 | 0.01 (0, 0.052) | |
| exon2 | 269T>C‡ | L90P | CCCTGATTGATC(T/C)TGGAGAGGAGT | 35 | 1 | 0 | 0.01 (0, 0.052) |
| Intron | IVS1-22T>C | CTTCGTTTGCTG(T/C)TATCTCTGTCTA | 35 | 1 | 0 | 0.01 (0, 0.052) | |
| Intron | IVS2+73T>C | GACTTACAGAGC(T/C)CCTCGGGCAGA | 34 | 2 | 0 | 0.03 (0, 0.082) | |
| exon3 | 374G>A‡ | R125H | AGGAGATCCGGC(G/A)TTTCTCCCTCAT | 35 | 1 | 0 | 0.01 (0, 0.052) |
| Intron | IVS3+197G>A§ | GCATGATTGTGC(G/A)TACAGTGTGGG | 26 | 9 | 1 | 0.15 (0.026, 0.252) | |
| Intron | IVS3+239C>T | ATCCCATGTTCTC(C/T)TGAACTTTGCT | 25 | 8 | 4 | 0.24 (0.1, 0.38) | |
| Intron | IVS3-334C>T§ | TCTCAGTGCCTTG(C/T)TGTCTACTGACT | 26 | 9 | 1 | 0.15 (0.035, 0.27) | |
| Intron | IVS3-65G>C§ | AACTACTATTATCT(G/C)TTAACAAATAC | 26 | 9 | 1 | 0.15 (0.035, 0.27) | |
| Intron | IVS4-115A>G§ | TTTCCCCATCAAG(A/G)TATACAATATA | 26 | 9 | 1 | 0.15 (0.035, 0.27) | |
| Intron | IVS4-50T>C | TGGTATATGGTATG(T/C)ATGCTTTTATTA | 35 | 1 | 0 | 0.01 (0, 0.052) | |
| Intron | IVS5-73A>G§ | ATAACTATGTGA(A/G)TAATTTTGAATTC | 26 | 9 | 1 | 0.15 (0.035, 0.27) | |
| Intron | IVS6+95A>G | TAGAGAAGCTTC(A/G)TTATTTAAACTTT | 34 | 2 | 0 | 0.03 (0, 0.082) | |
| Intron | IVS6+152A>G | ATGGTGATTACA(A/G)TGGGATATCTTGG | 34 | 2 | 0 | 0.03 (0, 0.082) | |
| Intron | IVS7+38C>T | CAACTCCATGTTTT(C/T)GAAGTCCCCA | 34 | 2 | 0 | 0.03 (0, 0.082) | |
| Intron | IVS8+147C>T | GTGTACACCCTG(C/T)TCATGATACATCC | 24 | 8 | 4 | 0.24 (0.1, 0.38) | |
| Intron | IVS8-109A>T | ATCTCTTCTACGAT(A/T)CACTGAACAGT | 14 | 16 | 6 | 0.39 (0.23, 0.548) | |
Parentheses with bold letters indicate the nucleotide change in the flanking sequence.
*
The reference sequence used was GenBank accession no. NC_000010.9.
†
Position is indicated in respect to the start codon ATG of the CYP2C9 gene; the A in ATG is +1 and the next base toward to 5′ is −1.
‡
Unidentified CYP2C9 variants in the 50 normal subjects are indicated in bold letters.
§
CYP2C9 variants exhibited significantly different allele frequencies compared with the 50 normal healthy subjects.