title: Functional variability of glutathione S-transferases in Basque populations.
abstract: OBJECTIVE
  Glutathione S-transferases (GSTs) are enzymes involved in Phase II reactions. They play a key role in cellular detoxification. Various studies have shown that genes coding for the GST are highly polymorphic and some of these variants are directly associated with a decrease of enzyme activity making individuals more susceptible to different clinical phenotypes. The aim of this study is to investigate the genetic variability of GST genes among human populations. We have focused our attention on the polymorphic variants of the GSTA1, GSTM1, GSTO1, GSTO2, GSTP1, GSTT1, and GSTT2B genes.
  
  
  METHODS
  These polymorphisms were analyzed in a whole sample of 151 individuals: 112 autochthonous Navarrese Basques, and 39 non-autochthonous Navarrese Basques. DNA extraction from plasma was performed by using the phenol:chloroform:isoamylic alcohol method. Genotyping of the gene polymorphisms was performed by PCR Multiplex and the PCR-RFLP method. We applied correspondence analysis and built frequency-maps to compare the genetic structure in worldwide populations.
  
  
  RESULTS
  Our results were compared with data available on the Human Genome Diversity Project (HGDP) and on the 1,000 Genomes Project to obtain information on the functional variability of GSTs in Basques. Our data indicated that Basque communities showed a higher differentiation of certain functional GST variants (i.e., GSTM1-positive/null genotype, GSTP1*I105V, and GSTT2B*1/0) than other European and Mediterranean populations.
  
  
  CONCLUSIONS
  This might account for epidemiological differences in the predisposition to diseases and drug response among Basques and could be used to design and interpret genetic association studies for this particular population.
authors.affiliation: Department of Biology, University of Rome "Tor Vergata,", Rome, Italy; Clinical Pathophysiology Center, AFaR-"San Giovanni Calibita" Fatebenefratelli Hospital, Isola Tiberina, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Iorio
authors.forename: Sara
authors.initials: S
authors.lastname: Piacentini
authors.forename: Renato
authors.initials: R
authors.lastname: Polimanti
authors.forename: Flavio
authors.initials: F
authors.lastname: De Angelis
authors.forename: Rosario
authors.initials: R
authors.lastname: Calderon
authors.forename: Maria
authors.initials: M
authors.lastname: Fuciarelli
mesh_terms: D005006:Ethnicity / Q000235:genetics; D005982:Glutathione Transferase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain
chemical_list: D005982:Glutathione Transferase