Allele frequencies in whites, African Americans, Asians, and two study populations of mixed ethnicity
*10 denotes a “collective” CYP2D6*10 assignment made by testing for 100T only. Combination of additional assays (see Fig 1 and Table 2) allowed further discrimination of collective CYP2D6*10 alleles as indicated.
Allele | WA (n = 418)a | AA (n = 562) | AA-SC (n = 252) | AS (n = 76) | DIV Infant (n = 310)b | DIV Tissue (n = 162)c |
|---|---|---|---|---|---|---|
| Total “*10” | 8 | 20 | 12 | 20 | 19 | 9 |
| *10 | 8 | 17d | 10 | 7 | 15 | 2 |
| *10x2 | 0 | 0 | 0 | 0 | N.D.e | 0 |
| *36 | 0 | 3 | 1 | 1 | 4 (AA) | 1 (AA) |
| *36x2 | 0 | 0 | 0 | 0 | 0 | 0 |
| *36+*10 | 0 | 0 | 1 | 10 | N.D. | 2 |
| *36 or *36x2f | n/a | n/a | 0 | 1 | N.A. | 1 (Oth) |
| *10 or *36+*10 | 1 | 3 (Oth) | ||||
| Frequency of *36 in %g | 0 | 0.53 | 0.79 | 2.63 | 2.5 (AA) | 2.0 (AA) |
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| 0 (CA) | 3.33 (Oth) |
WA, white American; AA, African American; AA-SC, African American with sickle cell disease; AS, Asian; DIV, ethnically diverse; Oth, ethnicity other or unknown; N.D., not determined; N.A., not applicable.
↵ a Number of chromosomes genotyped.
↵ b Ethnic diversity of infant samples (n = number of chromosomes) was WA, n = 126; AA, n = 160; AS, n = 8, Hispanic, n = 10; admixed or Oth, n = 6.
↵ c DNA samples were derived from a tissue bank: WA, n = 76; AA, n = 50; AS, n = 2, Hispanic, n = 2; N.A., n = 2; Oth, n = 30
↵ d The presence of a gene duplication could not be determined in three subjects because of a lack of DNA or compromised DNA quality.
↵ e Not all total `*10' alleles could be tested for the presence of a gene duplication in this cohort because of compromised DNA quality in genomic DNA samples (derived from buccal brushings) in a subset of samples
↵ f Long-range PCR and diagnostic CYP2D6*36 assays are compatible with either a CYPD6*36/*36+*10 or *36x2/*10 genotype.
↵ g Allele frequency contains CYP2D6*36 and CYP2D6*36 or CYP2D6*36x2 as indicated in footnote f.