Abstract

Background:The glutathione S transferases P1 (GSTP1) is one of the common type of the GSTs family. This gene has several genetic polymorphisms that the rs1695 and rs1138272 are the most common variations in this gene. This study aimed to examine the association of these genetic variations with breast cancer risk which was followed by bioinformatics analysis. Materials and Methods:In a case-control study, 200 participants including 100 women with breast cancer and 100 healthy women were enrolled. After blood sample collection and DNA extraction, the total genomic DNA was extracted from this sample. The SNPeffects online software was employed to evaluate the effects of rs1695 genetic variation on the GSTP1 protein structure. Results:Our data revealed that there is a significant association between rs1695 genetic variation and the risk of breast cancer in homozygote (OR= 3.1532, 95%CI= 1.1072 to 8.9798, p= 0.0315) and allelic (OR= 1.6098, 95%CI= 1.0577 to 2.4500, p= 0.0263) genetic comparisons. This despite the fact that the rs1138272 polymorphism was not associated with breast cancer risk. Our bioinformatics analysis based on WALTZ output showed that the rs1695 polymorphism reduces the amyloid propensity of the GSTP1 enzyme (dWALTZ= -228.00). Conclusions:Based on our findings, the rs1695 genetic variation is a genetic risk factor for breast cancer and it could be considered as a biomarker for screening of susceptible women.

Highlights

  • According to the studies, breast cancer has been recently one of the commonest types of cancer with continuous prevalence throughout the world

  • This study aimed to examine the association of these genetic variations with breast cancer risk which was followed by bioinformatics analysis

  • We evaluated the association of two common genetic variations (Ile105Val and Val114Ala) in the glutathione S transferases P1 (GSTP1) with breast cancer risk

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Summary

Introduction

Breast cancer has been recently one of the commonest types of cancer with continuous prevalence throughout the world. One of the most common members of GSTs is the GSTP1 which has a well-known genetic variation entitled rs1695 single nucleotide polymorphism (SNP) This gene is located on chromosome 11 (11q13) and the mentioned SNP causes an amino acid substitution has been described at codon 105 (A313G→Ile105Val), resulting in the production of a functionally changed enzyme (Vogl et al, 2004; Udomsinprasert et al, 2005). The glutathione S transferases P1 (GSTP1) is one of the common type of the GSTs family This gene has several genetic polymorphisms that the rs1695 and rs1138272 are the most common variations in this gene. Conclusions: Based on our findings, the rs1695 genetic variation is a genetic risk factor for breast cancer and it could be considered as a biomarker for screening of susceptible women

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