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首页> 外文期刊>Genomics >Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies
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Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies

机译：基于功能基因组学的EPHX1，GSTT1，GSTM1和GSTP1基因中潜在nsSNP的优先级，用于乳腺癌易感性研究

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In the present study, nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes were screened for their functional impact on concerned proteins and their plausible role in breast cancer susceptibility. Initially, SNPs were retrieved from dbSNP, followed by identification of potentially deleterious nsSNPs using PolyPhen and SIFT. Functional analysis was done with SNPs3D, SNPs&GO and MutPred methods. Prediction and evaluation of the functional impact on the 3D structure of proteins were performed with Swiss PDB viewer and NOMAD-Ref servers. On analysis, 13 nsSNPs were found to be highly deleterious and damaging to the protein structure, of which 6 nsSNPs, rs45549733, rs45506591 and rs4986949 of GSTP1, rs72549341 and rs148240980 of EPHX1 and rs17856199 of GSTT1 were predicted to be potentially polymorphic. It is therefore hypothesized that the 6 identified nsSNPs may alter the detoxification process and elevate carcinogenic metabolite accumulation thus modifies the risk of breast cancer susceptibility in a group of women.
机译：在本研究中，筛选了EPHX1，GSTT1，GSTM1和GSTP1基因中的nsSNP对相关蛋白质的功能影响及其在乳腺癌易感性中的合理作用。最初，从dbSNP中检索SNP，然后使用PolyPhen和SIFT鉴定潜在有害的nsSNP。使用SNPs3D，SNPs＆GO和MutPred方法进行功能分析。使用Swiss PDB Viewer和NOMAD-Ref服务器对蛋白质3D结构的功能影响进行了预测和评估。经分析，发现13 nsSNP对蛋白质结构具有高度有害性，并具有破坏性，其中6 nsSNP，GSTP1的rs45549733，rs45506591和rs4986949，EPHX1的rs72549341和rs148240980以及GSTT1的rs17856199可能具有潜在的多态性。因此，假设6个已确定的nsSNPs可能会改变排毒过程并提高致癌代谢物的积累，从而改变了一组女性患乳腺癌的风险。

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