title: GSTT1 and GSTM1 gene polymorphisms in European and African populations.
abstract: Glutathione S-transferases (GSTs) are a superfamily of detoxificant enzymes. Pharmacogenomic studies have revealed interethnic differences in GST allelic frequencies. This study is focused on GSTT1 (gene deletion, rs17850155, rs2234953, and rs11550605) and GSTM1 (gene deletion) gene frequency distributions in two population samples of Europe origin (Italy, n = 120; Spain, n = 94) and two population samples of Africa origin (Cameroon, n = 126; Ethiopia, n = 153). Detection of GSTT1 and GSTM1 null genotypes was performed by multiplex PCR analysis, while the other GSTT1 gene polymorphisms were detected using allele specific PCR and sequencing. GSTT1 and GSTM1 null frequencies in the samples analyzed fit with the variability range observed in European and African populations, respectively. The SNP analysis in GSTT1 gene did not highlight any nucleotide substitution in 493 individuals analyzed. The comparisons among GSTM1 and GSTT1 null phenotype frequencies in worldwide populations show different patterns between Asians, Africans, and Europeans. Important insights into the effects of GSTM1 and GSTT1 gene deletions on the pathogenesis of human diseases have been hypothesized. Detailed studies on the geography of GST variants could therefore increase knowledge about the relationship between ethnicity and the prevalence of certain diseases.
authors.affiliation: Department of Biology, University of Rome Tor Vergata, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Piacentini
authors.forename: Renato
authors.initials: R
authors.lastname: Polimanti
authors.forename: Flavia
authors.initials: F
authors.lastname: Porreca
authors.forename: Cristina
authors.initials: C
authors.lastname: Martínez-Labarga
authors.forename: Gian Franco
authors.initials: GF
authors.lastname: De Stefano
authors.forename: Maria
authors.initials: M
authors.lastname: Fuciarelli
mesh_terms: D000349:Africa; D000483:Alleles; D005006:Ethnicity; D005060:Europe; D017353:Gene Deletion; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D010597:Pharmacogenetics; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: D005982:Glutathione Transferase; C413545:glutathione S-transferase T1