Table 4.
All allele defining variants and SNPs displaying significant differences in allele frequencies between the Khoisan (n = 29), Mixed Ancestry (n = 65), and Xhosa (n = 65).
Position in gene | Allele | rs number | Khoisan-mixed ancestry | Khoisan-xhosa | Mixed ancestry-xhosa | |||
---|---|---|---|---|---|---|---|---|
GenBank: AF280107.1 | P-Value | OR (95% CI) | P-Value | OR (95% CI) | P-Value | OR (95% CI) | ||
−392 A>GG>A | CYP3A4*1B | rs2740574 | 0.000 | 0.257 (0.125–0.525) | 0.592 | 0.818 (0.392–1.705) | 0.000 | 3.189 (1.876–5.421) |
−292 T>G | Novel | 0.619 | 1.769 (0.187–16.713) | 0.041 | 21.343 (1.129–403.534) | 0.093 | 15.894 (0.628–402.140) | |
3847 A>G | Novel | 0.713 | 2.094 (0.041–106.852) | 0.094 | 0.087 (0.005–1.508) | 0.029 | 0.042 (0.002–0.716) | |
14268 C>T | CYP3A4*23 | rs57409622 | 0.137 | 10.138 (0.478–214.853) | 0.206 | 4.778 (0.424–53.807) | 0.566 | 0.391 (0.016–9.687) |
14269 G>A | CYP3A4*15 | rs4986907 | 0.713 | 2.094 (0.041–106.852) | 0.430 | 0.302 (0.015–5.935) | 0.202 | 0.144 (0.007–2.818) |
15649 A>T | CYP3A4*24 | rs113667357 | 0.059 | 3.519 (0.953–12.993) | 0.053 | 3.635 (0.985–13.414) | 0.964 | 1.033 (0.253–4.2220) |
15753 T>G | rs2687116 | 0.000 | 0.264 (0.132–0.529) | 0.783 | 1.108 (0.534–2.298) | 0.000 | 4.191 (2.447–7.180) | |
17829 T>C | Novel | 0.025 | 11.981 (1.367–105.025) | 0.025 | 11.981 (1.367–105.025) | 1.000 | 1.000 (0.062–16.163) | |
20230 G>A | CYP3A4*1G | rs2242480 | 0.000 | 0.142 (0.053–0.378) | 0.540 | 1.439 (0.450–4.603) | 0.000 | 10.167 (4.583–22.553) |
21896 C>T | CYP3A4*12 | rs12721629 | 0.707 | 2.128 (0.042–108.589) | 0.437 | 0.307 (0.016–6.030) | 0.202 | 0.144 (0.008–2.817) |
23081 C>T | rs12721620 | 0.083 | 0.161 (0.021–1.268) | 0.013 | 0.077 (0.010–0.583) | 0.043 | 0.477 (0.232–0.978) | |
25721 A>G | rs3735451 | 0.001 | 0.300 (0.143–0.629) | 0.076 | 2.140 (0.922–4.965) | 0.000 | 7.133 (3.718–13.685) |
Variants showing significant differences between the South African populations are indicated in shaded areas (P < 0.05).