Table 1.
Comparison of SCF Cultural Subgroup CYP2A6 and CYP2B6 Allele Variant Frequencies (n = 282) With Frequencies From Previously Studied AN/AI Populations
| Allele frequencies (%) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genotype | Activity | Southwestern | Northern | Western | Southeastern | Interior | Lower 48 | Yup’ika | Northern Plainsb | Southwestb | Whitec | African Americanc | Japanesec |
| n = 42 | n = 55 | n = 59 | n = 37 | n = 57 | n = 32 | n = 361 | n = 318 | n = 172 | |||||
| CYP2A6 | |||||||||||||
| *1X2A | Increase | 0.0 | 0.9 | 0.0 | 1.3 | 0.9 | 0.0 | - | - | - | - | - | - |
| *1B | Increase | 44.3 | 60.9 | 55.2 | 61.8 | 50.9 | 46.9 | 65.3 | 69.7 | 61.6 | 26.7–35.0 | 11.2–18.2 | 25.6–54.6 |
| *2 | None | 1.1 | 0.9 | 0.9 | 0.0 | 1.8 | 0.0 | 0.4 | 0.3 | 0.6 | 1.1–5.3 | 0–1.1 | 0.0 |
| *4 | None | 2.3 | 5.5 | 13.8 | 0.0 | 0.9 | 0.0 | 14.5 | 1.6 | 0.3 | 0.13–4.2 | 0.5–2.7 | 17.0–24.2 |
| *5 | None | 1.1 | 1.8 | 2.6 | 0.0 | 0.0 | 0.0 | - | - | - | 0–0.3 | 0.0 | 0.0 |
| *7 | Decrease | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0–0.3 | 0.0 | 6.3–12.6 |
| *8 | Normal | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | - | - | 0.0 | 0.0 | 0–1.1 |
| *9 | Decrease | 6.8 | 6.4 | 7.8 | 2.6 | 14.5 | 15.6 | 8.9 | 11.9 | 20.9 | 5.2–8.0 | 5.7–9.6 | 19.0–20.7 |
| *10 | Decrease | 1.1 | 2.7 | 0.0 | 0.0 | 1.8 | 0.0 | 1.9 | - | - | 0.0 | 0.0 | 3.2 |
| *12 | Decrease | 0.0 | 0.9 | 2.6 | 1.3 | 0.0 | 0.0 | 0.4 | 0.3 | 0.0 | 0–3.0 | 0–0.4 | 0–0.8 |
| *14 | Unknown | 6.8 | 0.9 | 0.0 | 1.3 | 1.8 | 0.0 | - | - | - | 3.5–5.7 | 1.4–2.5 | 0.0 |
| *17 | Decrease | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 7.1–10.5 | 0.0 |
| *18 | Decrease | 2.3 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | - | - | - | 1.1–2.1 | 0.0 | 0.0 |
| *21 | Normal | 0.0 | 0.9 | 0.0 | 0.0 | 0.9 | 3.1 | - | - | - | 0–2.3 | 0–0.6 | 0.0 |
| *35 | Decrease | 1.1 | 2.7 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.3 | 0.0 | 2.5–2.9 | 0.8 |
| *1+*S1 | Unknown | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 3.1 | - | - | - | - | - | - |
| CYP2B6 | |||||||||||||
| *2 | Unknown | 3.4 | 0.9 | 1.7 | 1.3 | 1.8 | 1.6 | - | - | - | 4.6 | 2.6 | 3.9 |
| *4 | Increase | 0.0 | 0.9 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | - | - | 3.9 | 0.0 | 6.0 |
| *5 | Unknown | 5.7 | 1.8 | 1.7 | 1.3 | 4.5 | 4.7 | - | - | - | 9.6 | 3.3 | 1.0 |
| *6 | Decrease | 25.0 | 41.8 | 48.3 | 64.5 | 40.9 | 32.8 | 51.7 | - | - | 25.6 | 32.8 | 18.0 |
| *9 | Unknown | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | - | - | 0.0 | 0.0 | 0.0 |
| *10 | Unknown | 0.0 | 0.9 | 0.0 | 0.0 | 0.0 | 0.0 | - | - | - | - | - | - |
| *11 | Decrease | 1.1 | 0.0 | 0.9 | 0.0 | 0.9 | 1.6 | - | - | - | 0.5 | 0.0 | 0.0 |
| *14 | Decrease | 0.0 | 0.0 | 0.0 | 0.0 | 0.9 | 0.0 | - | - | - | 0.0 | 0.0 | 0.0 |
| *15 | Decrease | 1.1 | 0.9 | 0.0 | 0.0 | 0.0 | 0.0 | - | - | - | 1.5 | 0.0 | 0.0 |
| chr19: 41512949 | Novel syn | 0.0 | 0.0 | 0.9 | 0.0 | 0.0 | 0.0 | - | - | - | - | - | - |
| chr19: 41518386 | Novel mis | 0.0 | 0.0 | 0.9 | 10.5 | 0.9 | 0.0 | - | - | - | - | - | - |
AIAN populations include aBinnington et al. 2012 and bTanner et al. 2017. The Northern Plains and Southwest populations from Tanner et al. 2017 are American Indian populations recruited from South Dakota and from the Southwest in Arizona, respectively, and do not represent Alaska Native populations. Non-AIAN population frequencies were included from the c1000 Genomes as well as Binnington et al. 2012. The “-” designates those frequencies that were not determined in the previous studies.