Table 1. Allele frequency of investigated SNPs.
Genetic variant | Reference SNP cluster ID | No. of patients | Homozygous wild-type, n (%) | Heterozygous variant, n (%) | Homozygous variant, n (%) | Frequency variant allele in this population | Frequency variant allele (Caucasian)a | Frequency variant allele (Global)a | Call rate, % | HWE P value |
---|---|---|---|---|---|---|---|---|---|---|
CYP2C8*3 (c.416G>A) | rs11572080 | 180 | non-carriers/GG 146 (81.1) | *3 carriers/GA 34 (18.9) | AA 0 | 0.094 (A) | 0.11 | 0.065 | 96 | 0.16 |
CYP3A4 c.522-191C>T | rs35599367 | 172 | CC 154 (89.5) | CT 17 (9.9) | TT 1 (0.6) | 0.055 (T) | 0.05b | 0.022 | 91 | 0.49 |
TUBB2A c.-101T>C | rs909964 | 182 | TT 100 (54.9) | TC 68 (37.4) | CC 14 (7.7) | 0.26 (C) | 0.26b | 0.43b | 97 | 0.61 |
FGD4 c.2044-236G>A | rs10771973 | 186 | GG 86 (46.2) | GA 79 (42.5) | AA 21 (11.3) | 0.33 (A) | 0.28 | 0.23 | 99 | 0.66 |
EPHA5 c.2895G>A | rs7349683 | 172 | GG 77 (44.8) | GA 69 (40.1) | AA 26 (15.1) | 0.35 (A) | 0.40 | 0.31 | 91 | 0.11 |
Abbreviations: HWE=Hardy–Weinberg equilibrium; SNP=Single-nucleotide polymorphism.
Frequency as reported in the SNP Database.
Frequency as reported in 1000 genomes.