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Distribution of several widespread, extensively studied polymorphic variants of genes of the cytosol glutathione-S-transferase subfamily (GSTA1, GSTM1, GSTM3, GSTP1, and GSTT1) has been studied in samples from Russian populations of European Russia, as well as Komi and Yakut populations used for comparison. Analysis of the GSTP1 and GSTM3 polymorphisms has not revealed significant differences in the distribution of alleles of the loci, including two-site GSTP1 haplotypes, in most Russian populations and between Komi populations. Only in the Yakut sample have a significant difference been found with respect to these loci in each pairwise comparison. Regarding the GSTT1 and GSTA1 genes, in addition to differences between the Yakut population and all other populations with respect to the GSTA1 gene, it has been found that the frequencies of the GSTT1 0/0 deletion genotype and GSTA1 −69T allele in the Russian sample from Mezen’ (Arkhangel’sk oblast) are substantially lower than in other Russian populations and Komi populations. The significance of these differences has been confirmed by tests for heterogeneity of the entire pool of Russian populations.

Polymorphism ofglutathione-S-transferase (GSTA1, GSTM1, GSTM3, GSTP1, and GSTT1) and DNA repair (ERCC1, ERCC2, and XRCC1) genes in samples of ovarian cancer patients and healthy women of the Russian ethnic group was studied. A trend in the allele frequency variation of ERCC2 gene single nucleotide polymorphism (rs13181, A > C) was revealed. The A allele frequency was higher in the sample of patients (60,6% versus 52,9%, P = 0.058).

Aim: There is a substantial difference between Asians and Caucasians in their reaction to platinum drugs. To determine whether population-related genomics contribute to differences in patient outcomes, pharmacogenomic relevance of polymorphisms in some genes, the protein activities of which may affect aspects of cisplatin metabolism, were evaluated. Patients & methods: Nineteen polymorphisms in ten genes were tested for correlations with the efficacy and toxicity of a cisplatin–cyclophosphamide regimen in Yakut and Russian patients with ovarian cancer. Results: The CYP2E1 7632T>A polymorphism was associated with progression-free survival (p = 0.015) in Yakuts. In Russians, progression-free survival was correlated with the GSTP1 Ile105Val polymorphism (p = 0.004). Yakut patients with the GSTT1-null genotype had a higher risk for nephrotoxicity. By contrast, in the Russian group, nephrotoxicity was more frequent among patients with heterozygous ERCC1 genotypes. Severe emesis in Yakuts was independently associated with two polymorphisms in the CYP2E1 gene but in Russians, it was more common in patients with the GSTT1-null genotype. Differences in genotypic correlations with anemia were also observed. Conclusion: Significant differences in genotype distribution between Russian and Yakut women were observed for ten of the 19 polymorphisms, but none of them seemed to be a clear casual candidate and further studies involving more markers are required. Original submitted: 9 June 2011; Revision submitted: 22 September 2011