NAT2 | HIV | Prevalence of slow acetylation phenotype was greater in AIDS patients with acute illnesses (93%) compared with control subjects (62%). | Lee et al., 1993 |
| HIV | 18 discrepancies between genotype and phenotype; 12 slow acetylators with fast acetylation genotype and six fast acetylators with slow acetylation genotype. Among the slow acetylators whose genotype was fast, the incidence of AIDS was higher (six of 12) than that among the fast acetylators whose genotype was fast (two of 14). | O’Neil et al., 1997 |
| HIV | Numerous discrepancies between phenotype and genotype. | O’Neil et al., 2000a |
| HIV | Sixteen (94%) of the 17 HIV-infected individuals phenotyped were phenotypic slow acetylators, while only 7 (47%) of the 15 genotyped were slow acetylators by genotype. | Jones et al., 2010 |
CYP2D6 | HIV | Two of the 59 genotypic EM subjects expressed a PM phenotype and four others were less EMs of dextromethorphan compared with those receiving medication known to inhibit CYP2D6. | O’Neil et al., 2000b |
| HIV | Five (29%) of their 17 HIV-positive patients were phenotypic CYP2D6 PM, but only one of these five was found to be a PM by genotype. | Jones et al., 2010 |
| Hepatitis C | There was a genotype-phenotype mismatch in 7 LKM-1 positive patients; six expressed an IM and one a PM phenotype. | Girardin et al., 2012 |
| Liver transplant | The phenotype of 13 subjects was changed by liver transplant; six EMs became PMs and seven PMs became EMs. | Monek et al., 1998 |
CYP2C19 | Cancer | Among 16 patients with CYP2C19 EM genotype were four (25%) with PM phenotype, and in the other 12 there was a general shift toward a slower metabolic activity. | Williams et al., 2000 |
| Cancer | Phenotypic PM status in 37% of the patients who had EM genotype | Helsby et al., 2008 |
| Multiple myeloma | Seven (28%) of these 25 genotypic EM subjects were classified as phenotypic CYP2C19 PMs. | Burns et al., 2014 |
| Liver disease | Thirty (64%) of 47 patients with liver disease (of whom 41 were also comedicated) and 20 (18%) of 110 comedicated patients without liver disease had PM phenotype. | Rost et al., 1995 |