Polymorphisms at <i> GSTM </i>1, <i> GSTP </i>1, <i> GSTT </i>1 Detoxification Genes Loci and Risk of Breast Cancer in Kazakhstan Population

Abstract

Associations of null polymorphism (copy number variation) of detoxification genes GSTM1, GSTT1 and GSTP1 (at rs2495636, 105 Ile/Val) with the breast cancer (BC) were assessed in two main ethnic groups of the Republic of Kazakhstan (Kazakhs and Russians). Total number of patients was 181, and of controls 397. Statistically significant difference was observed between BC patients and healthy individuals in alleles frequency (χ 2 = 4.89, р = 0.007) of GSTP1 gene at rs2495636 (105 Ile/Val) among the Kazakhs ethnic group. Difference in genotypes distribution (χ 2 =5.26, р = 0.076) at this site is approximating to be statistically significant. In the Russian group, no differences were found in genotypes and alleles atrs 2495636 of GSTP1 gene between cases and controls. There was no significant difference between null polymorphism (copy number variation) of GSTM1 and GSTT1 genes among cases and controls in both ethnic groups.

The influence of glutathion S-transferase P-1 polymorphism A313G rs1695 on the susceptibility to cyclophosphamide hematologic toxicity in Indonesian patients

“…This finding is similar to the Yogyakarta, Indonesian, 10 Khazakstan, 16 Chinese, 7 Taiwanese, 17 Brazilian, 18 and Italian. 19 But in Malay subjects from our http://mji.ui.ac.id data showed a significant deviated from HardyWeinberg equilibrium.…”

Sickle Cell Anemia Patients in Use of Hydroxyurea: Association between Polymorphisms in Genes Encoding Metabolizing Drug Enzymes and Laboratory Parameters

“…SNPs CYP2E1 −1293G>C/−1053C>T (rs3813867/rs2031920), NQO1 609C>T (rs1800566), and MPO −463G>A (rs2333227) were investigated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis using the Hinf I, Rsa I, and Aci I restriction enzymes, respectively [ 19 , 30 , 31 ]. Deletions of GSTT1 and GSTM1 were investigated by multiplex PCR, and the β -globin gene ( HBB ) was used as an internal reaction control [ 22 ]. β S globin gene cluster haplotypes were investigated by PCR-RFLP and talassemia α 2 del 3.7kb by PCR [ 32 , 33 ].…”

“…It is known that individuals with low NQO1 activity and high CYP2E1 activity would potentially be more susceptible to the toxic effects of xenobiotic than those with low CYP2E1 and high NQO1 activities [ 21 ]. GST(M1/T1) is involved in the detoxification of a wide variety of potentially toxic and carcinogenic electrophiles by conjugating them to glutathione [ 22 ] and enhancing xenobiotic solubility which facilitates its elimination [ 23 ].…”

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity

“…It is also discussed as a founder mutation for the development of BC in Uzbek, Ashkenazi Jewish, Tatar and Russian populations [43][44][45][46]. Previous studies of the BRCA1 gene showed the absence of the c.5266dup PV in a cohort of 121 Kazakh patients with BC, mean age of 50.3 ± 11.5 years [47]. A previous study using Sanger sequencing to identify BRCA variants in sporadic BC women from Kazakhstan with an average age of 50-51 years did not reveal any recurrent PVs, including BRCA1 c.5266dup and c.5278-2del [48].…”