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

• Type: Article in International Scientific Journal
• Date: 2007

Authors

Oliveira, E (Author) Other; Quental, S (Author) Other; Alves, S (Author) Other; Amorim, A (Author) FCUP; Prata, MJ (Author) FCUP

Journal

Title: European Journal of Clinical Pharmacology

Vol. 63

Pages: 703-706

ISSN: 0031-6970

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 24 Citations

Scopus - 29 Citations

Scientific classification

FOS: Medical and Health sciences > Basic medicine

Other information

Authenticus ID: P-004-910

DOI: 10.1007/s00228-007-0310-8

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4