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肿瘤蛋白 53 的 72Pro 变体与摩洛哥人群的乳腺癌风险增加相关。

The 72Pro Variant of the Tumor Protein 53 Is Associated with an Increased Breast Cancer Risk in the Moroccan Population.

机构信息

Laboratory of Genetics and Molecular Pathology, Medical School of Casablanca, Casablanca, Morocco.

University Hassan II of Casablanca, Doctoral School of Health Sciences, Casablanca, Morocco.

出版信息

Pathobiology. 2018;85(4):247-253. doi: 10.1159/000489852. Epub 2018 Jun 25.

Abstract

BACKGROUND

The purpose of our case control study is to explore the potential association of tumor protein 53 (TP53) c.215G>C, p. (Arg72Pro) polymorphism (rs1042522) with the risk of breast cancer (BC) development in the Moroccan population.

METHODS AND RESULTS

The study population consisted of 125 female patients with confirmed BC and 126 healthy controls. DNA samples were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism assay method using BstUI restriction enzyme. We showed that the homozygous genotype of TP53 72Pro variant was significantly associated with increased BC risk (OR 2.2, 95% CI 1.07-4.54, p = 0.03). The dominant and additive models of TP53 Pro allele were also correlated to the risk of BC (OR 2.13, 95% CI 1.07-4.23, p = 0.02 and OR 1.49, 95% CI 1.03-2.16, p = 0.03, respectively). Furthermore, the TP53 Arg72 variant was associated with protection against BC, either in the homozygous genotype, the dominant or the additive models (OR 0.45, 95% CI 0.22-0.93, p = 0.03; OR 0.46, 95% CI 0.23-0.92, p = 0.029 and OR 0.67, 95% CI 0.46-0.97, p = 0.03, respectively).

CONCLUSION

Our results suggest that TP53 c.215G>C, p. (Arg72Pro) polymorphism may be considered as a genetic marker for predisposition to BC in Moroccan population.

摘要

背景

本病例对照研究的目的是探讨肿瘤蛋白 53(TP53)c.215G>C,p.(Arg72Pro)多态性(rs1042522)与摩洛哥人群乳腺癌(BC)发病风险的潜在关联。

方法和结果

研究人群包括 125 名确诊为 BC 的女性患者和 126 名健康对照者。使用 BstUI 限制酶的聚合酶链反应-限制性片段长度多态性检测方法对 DNA 样本进行基因分型。我们发现 TP53 72Pro 变体的纯合基因型与 BC 风险增加显著相关(OR 2.2,95%CI 1.07-4.54,p=0.03)。TP53 Pro 等位基因的显性和加性模型也与 BC 风险相关(OR 2.13,95%CI 1.07-4.23,p=0.02 和 OR 1.49,95%CI 1.03-2.16,p=0.03)。此外,TP53 Arg72 变体与 BC 的保护作用相关,无论是在纯合基因型、显性或加性模型中(OR 0.45,95%CI 0.22-0.93,p=0.03;OR 0.46,95%CI 0.23-0.92,p=0.029 和 OR 0.67,95%CI 0.46-0.97,p=0.03)。

结论

我们的结果表明,TP53 c.215G>C,p.(Arg72Pro)多态性可被视为摩洛哥人群易患 BC 的遗传标志。

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