A pathway-driven predictive model of tramadol pharmacogenetics

Eur J Hum Genet. 2019 Jul;27(7):1143-1156. doi: 10.1038/s41431-019-0369-6. Epub 2019 Mar 1.

Abstract

Predicting metabolizer phenotype (MP) is typically performed using data from a single gene. Cytochrome p450 family 2 subfamily D polypeptide 6 (CYP2D6) is considered the primary gene for predicting MP in reference to approximately 30% of marketed drugs and endogenous toxins. CYP2D6 predictions have proven clinically effective but also have well-documented inaccuracies due to relatively high genotype-phenotype discordance in certain populations. Herein, a pathway-driven predictive model employs genetic data from uridine diphosphate glucuronosyltransferase, family 1, polypeptide B7 (UGT2B7), adenosine triphosphate (ATP)-binding cassette, subfamily B, number 1 (ABCB1), opioid receptor mu 1 (OPRM1), and catechol-O-methyltransferase (COMT) to predict the tramadol to primary metabolite ratio (T:M1) and the resulting toxicologically inferred MP (t-MP). These data were then combined with CYP2D6 data to evaluate performance of a fully combinatorial model relative to CYP2D6 alone. These data identify UGT2B7 as a potentially significant explanatory marker for T:M1 variability in a population of tramadol-exposed individuals of Finnish ancestry. Supervised machine learning and feature selection were used to demonstrate that a set of 16 loci from 5 genes can predict t-MP with over 90% accuracy, depending on t-MP category and algorithm, which was significantly greater than predictions made by CYP2D6 alone.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • ATP Binding Cassette Transporter, Subfamily B / metabolism
  • Cytochrome P-450 CYP2D6* / genetics
  • Cytochrome P-450 CYP2D6* / metabolism
  • Female
  • Glucuronosyltransferase* / genetics
  • Glucuronosyltransferase* / metabolism
  • Humans
  • Male
  • Models, Genetic*
  • Pharmacogenetics
  • Pharmacogenomic Variants*
  • Receptors, Opioid, mu*
  • Tramadol / pharmacokinetics*

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • OPRM1 protein, human
  • Receptors, Opioid, mu
  • Tramadol
  • Cytochrome P-450 CYP2D6
  • UGT2B7 protein, human
  • Glucuronosyltransferase