TABLE 5-1 Classification of a Partial List of Human Pharmacogenetic or Ecogenetic Differencesa

Less enzyme or a defective protein

N-acetylation polymorphisms (NAT2, NAT1)

Increased susceptibility to chemical-induced hemolysis (G6PD deficiency) (G6PD)

Hereditary methemoglobinemias; hemoglobinopathies

P450 monooxygenase polymorphisms (oxidation deficiencies). Debrisoquine (CYP2D6), S-mephenytoin (CYP2C19 & 2C9), phenytoin (CYP2C9 & 2C19), nifedipine (CYP3A4), coumarin and nicotine (CYP2A6), theophylline (CYP1A2), acetaminophen (CYP2E1)

Null mutants of glutathione transferase, mu class (GSTM1); theta class (GSTT1)

Thiopurine methyltransferase (TPMT)

Paraoxonase deficiency, sarinase (PON1)

UDP glucuronosyltransferase (Gilbert’s disease, UGT1A1; (S)-oxazepam, UGT2B7)

NAD(P)H:quinone oxidoreductase (NQO1)

Epoxide hydrolase (HYL1)

Atypical alcohol dehydrogenase (ADH)

Atypical or absent aldehyde dehydrogenase (ALDH2)

Defect in converting aldophosphamide to carboxyphosphamide

α1-antitrypsin (PI)

α1-antichymotrypsin (ACT)

Angiotensin-converting enzyme (DCP1, ACE)

Acatalesemia (CAT)

Dihydropyrimidine dehydrogenase (DPD)

Succinyl sensitivity, atypical or absent serum cholinesterase (CHE1)

Cholesteryl ester transfer protein (CETP)

Butyrylcholinesterase (BCE1)

Fish odor syndrome (FMO3)

Glucocorticoid-remediable aldosteronism (CYP11B1, CYP11B2)

Dubin-Johnson syndrome; multispecific organic anion transporter (MOAT, MRP)

Altered serotonin transporter (5HHT)

Altered dopamine transporter (DAT)

Dopamine receptors (D2DR, D4DR)

Defective drug transporters (e.g., MDR1), resistance to chemotherapeutic agents

Licorice-induced pseudoaldosteronism (HSD11B1)

Mineralocorticoid excess with hypertension (HSD11B2)

Pyridoxine (vitamin B6)-responsive anemia (ALAS2)

Increased resistance to chemicals

Inability to taste phenylthiourea

Coumarin anticoagulant resistance

Androgen resistance

Estrogen resistance

Cushing syndrome from low doses of dexamethasone

Insulin resistance

Rhodopsin variants; dominant form of retinitis pigmentosa

Vasopressin resistance (AVPR2)

Increased metabolism—Atypical liver alcohol dehydrogenase (ADH)

Defective receptor—Malignant hyperthermia / general anesthesia (Ca2+-release channel ryanodine receptor) (RYR1, MHS1)



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