Table 2.
Technical Details and Results of CYP2D6*4 Genotype or CYP2D6 Activity Score Concordance Studies
| First Author, Year (Reference No.) | Call Rate, % | No. of Analyzed Pairs | No. of Pairs Assayed | Nonneoplastic Tissue Source | Genotyping Method | P for HWEa | Agreement, % | 95% CI |
|---|---|---|---|---|---|---|---|---|
| Rae, 2003 (44) | 100 | 10 | 10 | Peripheral blood lymphocytes | PCR/RFLP | 0.73 | 100 | 74, 100b |
| Goetz, 2005 (46) | 88 | 15 | 17 | Buccal cells | TaqMan allelic discrimination (Applied Biosystems, Inc., Waltham, Massachusetts) | Genotype distribution not reported | 100 | 82, 100b |
| Ahern, 2010 (43) | 99 | 105 | 106 | FFPE nonneoplastic lymphoid tissue | TaqMan allelic discrimination | 0.46 | 100 | 97, 100 |
| Thompson, 2011 (45) | 100 | 133 | 133 | Peripheral blood lymphocytes | AmpliChip CYP450 (Hoffmann-La Roche AG, Basel, Switzerland) | Genotype distribution not reported | 100 | 98, 100b |
| Rae, 2013 (39) | 99 | 121 | 122 | Peripheral blood lymphocytes | TaqMan allelic discrimination | 0.52c | 98 | 94, 100 |
| Goetz, 2015 (33) | 98 | 186 | 190 | FFPE sections containing nonmalignant tissue | TaqMan allelic discrimination | 0.0002c | 88 | 82, 92b |
Abbreviations: CI, confidence interval; CYP2D6, cytochrome P-450 2D6; FFPE, formalin-fixed, paraffin-embedded; HWE, Hardy-Weinberg equilibrium; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism.
a P value from a χ2 test for departure of observed CYP2D6*4 genotype frequencies in DNA extracted from tumor-infiltrated tissues from genotype frequencies expected under HWE.
b Calculated from information presented in the published article; confidence limits are mid-P binomial.
c Calculated from information presented in the published article.