Table 2.
Nucleotide Changes, Haplotypes, and Genotype Frequencies of CYP2A6 in Ethiopians Living in Ethiopia and Ethiopians Living in Sweden
| CYP2A6 allelic variants | All (95% CI) | Living in Ethiopia (95% CI) | Living in Sweden (95% CI) |
|---|---|---|---|
| −1013A>G | 0.576 (0.55–0.60) | 0.572 (0.54–0.61) | 0.581 (0.54–0.62) |
| −48T>G | 0.029 (0.02–0.04) | 0.03 (0.02–0.04) | 0.028 ((0.01–0.04) |
| Gene deletion | 0.009 (0.0–0.01) | 0 | 0.014 (0.01–0.02) |
| Gene conversion in 3′ region | 0.318 (0.29–0.34) | 0.327 (0.29–0.36) | 0.306 (0.27–0.34) |
| Gene duplication | 0.003 (0.0–0.01) | 0 | 0.008 (0.00–0.02) |
| 479T>A | 0.006 (0.0–0.01) | 0.01 (0.0–0.02) | 0 |
| 6582G>T | 0 | 0 | 0 |
| Haplotype | |||
| CYP2A6*1A | 0.348 (0.32–0.37) | 0.349 (0.32–0.38) | 0.347 (0.31–0.39) |
| CYP2A6*1B | 0.313 (0.29–0.34) | 0.323 (0.29–0.36) | 0.298 (0.26–0.34) |
| CYP2A6*1D | 0.294 (0.27–0.32) | 0.292 (0.26–0.32) | 0.298 (0.26–0.34) |
| CYP2A6*2 | 0.006 (0.0–0.01) | 0.01 (0.0–0.02) | 0 |
| CYP2A6*4 | 0.006 (0.0–0.01) | 0 | 0.016 (0.01–0.03) |
| CYP2A6*5 | 0 | 0 | 0 |
| CYP2A6*9 | 0.028 (0.02–0.04) | 0.026 (0.23–0.29) | 0.032 (0.02–0.05) |
| CYP2A6*1x2 | 0.003 (0.0–0.01) | 0 | 0.8% (0.0–0.02) |
| Genotype (n, %) | |||
| CYP2A6*1A/*1A | 15 (9.49%) | 10 (10.4%) | 5 (8.06%) |
| CYP2A6*1A/*1B | 40 (25.3%) | 24 (25.0%) | 16 (25.8%) |
| CYP2A6*1A/*1D | 32 (20.3) | 19 (19.8%) | 13 (21.0%) |
| CYP2A6*1A/*2 | 2 (1.27%) | 2 (2.1%) | |
| CYP2A6*1A/*4 | 1 (0.63%) | 1 (1.6%) | |
| CYP2A6*1A/*9 | 5 (3.16%) | 3 (4.8%) | |
| CYP2A6*1B/*1B | 15 (9.49%) | 10 (10.4%) | 5 (8.1%) |
| CYP2A6*1B/*1D | 26 (16.5%) | 17 (17.7%) | 9 (14.5%) |
| CYP2A6*1B/*4 | 1 (0.632%) | 1 (1.6%) | |
| CYP2A6*1B/*9 | 2 (1.26%) | 1 (1.1%) | 1 (1.6%) |
| CYP2A6*1D/*1D | 16 (10.1%) | 9 (9.4%) | 7 (11.3%) |
| CYP2A6*1D/*9 | 2 (1.27%) | 2 (2.1%) | |
| CYP2A6*1D/1x2 | 1 (0.63%) | 1 (1.6%) | |
CYP2A6*1A (wild type), CYP2A6*1B (gene conversion in 3′ region with or without −1013A>G), CYP2A6*1D (−1013A>G), CYP2A6*1Dx2 (−1013A>G, gene duplication), CYP2A6*1x2 (gene duplication), CYP2A6*2 (479T>A), CYP2A6*4 (gene deletion), CYP2A6*9 (−48T>G).