Functional variability of glutathione S-transferases in basque populations
Version of Record online: 17 FEB 2014
Copyright © 2014 Wiley Periodicals, Inc.
American Journal of Human Biology
Volume 26, Issue 3, pages 361–366, May/June 2014
How to Cite
Iorio, A., Piacentini, S., Polimanti, R., De Angelis, F., Calderon, R. and Fuciarelli, M. (2014), Functional variability of glutathione S-transferases in basque populations. Am. J. Hum. Biol., 26: 361–366. doi: 10.1002/ajhb.22520
- Issue online: 23 APR 2014
- Version of Record online: 17 FEB 2014
- Manuscript Accepted: 21 JAN 2014
- Manuscript Revised: 11 JAN 2014
- Manuscript Received: 19 NOV 2013
- Ricerca Scientifica di Ateneo (RSA) Grant 2009 from University of Rome “Tor Vergata,” PRIN 2009–2011 (prot. n. 200975T9EW) from MIUR [to M.F.] and the Basque Government (Research Project GVPI1997-18 [to R.C.])
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.
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.
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.
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. Am. J. Hum. Biol. 26:361–366, 2014. © 2014 Wiley Periodicals, Inc.