Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

Eur J Clin Pharmacol. 2007 Jul;63(7):703-6. doi: 10.1007/s00228-007-0310-8. Epub 2007 May 1.

Abstract

Genetic data on the thiopurine S-methyltransferase (TPMT) polymorphism were obtained in population samples from Cabinda and Mozambique (located in the western and eastern coasts of sub-Saharan Africa, respectively). The overall frequency of TPMT-deficient alleles was 5.6% in Mozambique and 6.3% in Cabinda. Accordingly, one out of the 103 individuals from Cabinda tested had a genotype associated with TPMT deficiency, yielding a frequency that is threefold higher than heretofore reported in any population. In addition, in both Cabinda or Mozambique, TPMT*8 accounted for a significant proportion of non-functional alleles (nearly 40% in Cabinda). Since the substitution defining TPMT*8 seems to be highly specific of sub-Saharan Africa populations and given the fact it has not been integrated into the set of single nucleotide polymorphisms routinely tested for TPMT, a re-design of molecular screenings should be considered in the future in order to avoid serious underestimates of TPMT deficiency when the enzymatic profiles in populations are unknown.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Black People*
  • Democratic Republic of the Congo
  • Gene Frequency*
  • Genetic Variation
  • Genotype
  • Humans
  • Methyltransferases / deficiency
  • Methyltransferases / genetics*
  • Mozambique
  • Polymorphism, Single Nucleotide*

Substances

  • Methyltransferases
  • thiopurine methyltransferase