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首页> 外文期刊>BMC Cancer >Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study
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Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study

机译:摩洛哥人群中ERCC2和MSTH多态性与乳腺癌敏感性的重大关联:案例对照研究中的基因型和单倍型分析

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摘要

Genetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population. We genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151?BC cases and 156 population-matched controls. Allelic, genotypic and haplotype associations with the risk and clinicopathological features of BC were assessed using logistic regression analyses. ERCC2-rs1799793-AA genotype was associated with high risk of BC compared to wild type genotype (recessive model: OR: 2.90, 95% CI: 1.34–6.26, p?=?0.0069) even after Bonferroni correction (p?
机译:乳腺癌(BC)的遗传决定簇在大多数摩洛哥患者中仍然在很大程度上是未知的。本研究的目的是探讨ERCC2和MTHFR多态性与摩洛哥人群乳腺癌遗传易感性的关联。使用Taqman SNP基因分型测定,我们基因分型Ercc2多态性(RS1799793(G934A)和RS13181(A2251C))和MTHFR多态性(RS1801133(C677T)和RS1801131(A1298C))。将基因型在151例进行比较,BC病例和156种匹配对照。使用Logistic回归分析评估了BC风险和临床病理特征的等位基因,基因型和单倍型关联。与野生型基因型相比,ERCC2-RS1799793-AA基因型与BC的高风险有关(隐性模型:或:2.90,95%CI:1.34-6.26,P?= 0.0069)即使在Bonferroni校正之后)(P?<?0 ,0125)。 MTHFR RS1801133-TT基因型与BC的风险增加有关(隐性模型,或:2.49,95%CI:1.17-5.29,P?=?0.017),但在Bonferroni校正后结合转变无关紧要。对于其余的SNP,未检测到BC风险的统计关联。对于诊断和家族性BC的休眠,对MTHFR-RS1801133-TC基因型检测到与临床特征的显着关联。在Bonferroni校正之后,只与家族式BC的关联保持重要意义。 MTHFR-RS1801131-CC基因型与零星BC相关。 ERCC2-RS1799793-AA基因型与ER +和PR +乳腺癌相关。 ERCC2-RS13181-CA基因型在BC患者中具有显着相关的大肿瘤(T?≥≤3)。这些关联都不通过Bonferroni校正。单倍型分析表明,ERCC2 AC单倍型与BC风险的增加显着相关(或:3.71,95%CI:1.7-8.12,P?=?0.0002和P?=?0.0008之前和之后Bonferroni校正之前和之后)和正表达ER和PR在BC患者中。 ERCC2 G-C单倍型与PR阴性和较大的肿瘤(T4)相关。我们没有发现任何与BC易感性相关的MTHFR单倍型。然而,在年轻患者和家族性乳腺癌中,较少常见的单倍型MTHFR T-C越频繁,而MTHFR C-C单倍型与散发性BC形式相关。我们的研究结果是摩洛哥人口中ERCC2 SNP和乳腺癌之间关联的首次观察。结果表明,ERCC2和MTHFR多态性可能可靠地评估摩洛哥人群BC的风险和预后。

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