Table 4

Genotype and Allele frequencies for the studied genes

PolymorphismaNomenclatureDescriptionbGenotype frequenciescAllele frequencies (95% CI)d
WtHetVarpqr
ABCB1 1236 C>Tn/aeG411G231580.66 (0.52–0.78)0.34 (0.22–0.48)
ABCB1 3435 C>Tn/aE1143E163580.57 (0.44–0.69)0.43 (0.31–0.56)
ABCB1 2677 G>T/An/aA893S or T1223/413/10.48 (0.35–0.61)0.47 (0.34–0.60)0.05 (0.02–0.14)
ABCC1 14008 G>An/aintron 27322750.71 (0.59–0.81)0.29 (0.19–0.41)
ABCC1 462 C>Tn/aP154P65001.000.00
ABCC1 34215 C>Gn/aintron 18020400.17 (0.1–0.28)0.83 (0.72–0.90)
ABCC2 156231 A>Gn/aintron 365001.000.00
ABCG2 623T>Cn/aF208S63001.000.00
CES1 1440 A>Tn/aL480F64001.000.00
CES1 1525 A>Cn/aN509H60100.99 (0.92–1)0.01 (0–0.08)
CES2 1647 C>Tn/aL549L56100.99 (0.92–1)0.01 (0–0.08)
CYP3A4 −392 A>G CYP3A4*1B Promoter46300.97 (0.88–0.99)0.03 (0.01–0.12)
CYP3A4 15713 T>C CYP3A4*2 S222P39001.000.00
CYP3A4 23172 T>C CYP3A4*3 M445T62200.98 (0.91–1)0.02 (0–0.09)
CYP3A5 22893 G>A CYP3A5*3C Splice variant56800.94 (0.85–0.98)0.06 (0.02–0.15)
CYP3A5 30597 G>A CYP3A5*6 Splice variant63001.000.00
UGT1A1 (TA)nf UGT1A1*28 Promoter342220.78 (0.66–0.87)0.22 (0.13–0.34)
UGT1A1 1456 T>G UGT1A1*7 Y486D62001.000.00
XRCC1 26304 C>Tn/aR194W35800.91 (0.79–0.96)0.09 (0.04–0.21)
XRCC1 27466 G>An/aR280H60200.98 (0.91–1)0.02 (0–0.09)
XRCC1 28152 G>An/aR399Q252750.68 (0.55–0.79)0.32 (0.21–0.45)
  • a Number represents position in nucleotide sequence.

  • b Number represents amino acid codon.

  • c Number represents number of patients.

  • d Hardy-Weinberg notation was used for allele frequencies (p, q, and r).

  • e n/a, not available; CI, confidence intervals; Wt, Wild type patient; Het, Heterozygous variant type patient; Var, Homozygous variant type patient.

  • f p = 6 dinucleotide repeats, q = 7 dinucleotide repeats.