Table 3.

Genotype and allele frequencies for the studied variant genes

Polymorphism*NomenclatureEffectGenotype frequencies
Allele frequencies§
WtHetVarpq
CYP2C8 805A>TCYP2C8*2I269F69 (98.6)1 (1.43)0 (0)0.9930.007
CYP2C8 416G>ACYP2C8*3R139K78 (84.8)11 (11.9)3 (3.26)0.9080.092
CYP2C8 792C>GCYP2C8*4I264M90 (95.7)4 (4.26)0 (0)0.9790.021
CYP3A4 1334T>CCYP3A4*3M445T93 (98.9)1 (1.06)0 (0)0.9950.005
CYP3A5 6986A>GCYP3A5*3CSplice variant1 (1.05)11 (11.6)83 (87.4)0.0680.932
ABCB1 3435C>TNAI1145I22 (25.3)48 (55.2)17 (19.5)0.5290.471
  • Abbreviations: Wt, homozygous wild type patient; Het, heterozygous patient; Var, homozygous variant patient; NA, not available.

  • * Number represents position in nucleotide sequence.

  • Number represents amino acid codon.

  • Number represents number of patients with percentage in parenthesis; the difference in the total number of patients is due to the fact that not all samples yielded Pyrosequencing data or showed PCR amplification.

  • § Hardy-Weinberg notation for allele frequencies (p, frequency for wild-type allele; q, frequency for variant allele).