采用计算方法探索XRCC4基因中的有害单核苷酸多态性，并研究其与西印度人群乳腺癌的关联。

Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India.

作者信息

Singh Preety K, Mistry Kinnari N, Chiramana Haritha, Rank Dharamshi N, Joshi Chaitanya G

机构信息

Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences (ARIBAS), New Vallabh Vidyanagar, Affiliated to Sardar Patel University, Anand, Gujarat 388121, India.

出版信息

Gene. 2018 May 20;655:13-19. doi: 10.1016/j.gene.2018.02.040. Epub 2018 Feb 13.

DOI:10.1016/j.gene.2018.02.040

PMID:29452234

Abstract

Non-homologous end joining (NHEJ) pathway has pivotal role in repair of double-strand DNA breaks that may lead to carcinogenesis. XRCC4 is one of the essential proteins of this pathway and single-nucleotide polymorphisms (SNPs) of this gene are reported to be associated with cancer risks. In our study, we first used computational approaches to predict the damaging variants of XRCC4 gene. Tools predicted rs79561451 (S110P) nsSNP as the most deleterious SNP. Along with this SNP, we analysed other two SNPs (rs3734091 and rs6869366) to study their association with breast cancer in population of West India. Variant rs3734091 was found to be significantly associated with breast cancer while rs6869366 variant did not show any association. These SNPs may influence the susceptibility of individuals to breast cancer in this population.

摘要

非同源末端连接（NHEJ）途径在可能导致癌变的双链DNA断裂修复中起关键作用。XRCC4是该途径的必需蛋白质之一，据报道该基因的单核苷酸多态性（SNP）与癌症风险相关。在我们的研究中，我们首先使用计算方法预测XRCC4基因的有害变异。工具预测rs79561451（S110P）非同义单核苷酸多态性为最有害的SNP。除了这个SNP，我们还分析了其他两个SNP（rs3734091和rs6869366），以研究它们与西印度人群乳腺癌的关联。发现rs3734091变异与乳腺癌显著相关，而rs6869366变异未显示任何关联。这些SNP可能影响该人群个体对乳腺癌的易感性。