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INF-γ功能性单核苷酸多态性+874 T/A(rs2430561)与乳腺癌风险的关系。

Involvement of INF-γ functional single nucleotide polymorphism +874 T/A (rs2430561) in breast cancer risk.

作者信息

Al-Rashidi Hanan E, Refaat Sherif, Ahmed Enas, Hussein Dalia T, Eltantawy Fatma M, Hamed Sahar

机构信息

Medical Laboratory Technology Department, College of Applied Medical Science, Taibah University, Madinah, Saudi Arabia.

Oncology Center, Mansoura University, Egypt.

出版信息

Saudi J Biol Sci. 2021 Nov;28(11):6289-6296. doi: 10.1016/j.sjbs.2021.06.083. Epub 2021 Jul 2.

DOI:10.1016/j.sjbs.2021.06.083
PMID:34759748
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8568710/
Abstract

According Global Cancer Statistics 2020 GLOBOCAN estimates female breast cancer was found as the most commonly diagnosed cancer, with an estimated 2.3 million new cases (11.7%), and the fourth leading cause (6.9%) of cancer death among women worldwide. Identification of new diagnostic marker sharply characterize the tumor feature is intensive need. The present work was performed to investigate the involvement of the INF-γ + 874 T/A gene polymorphism in different breast cancer prognostic factors. Polymorphism detection analysis was performed on 163 subjects from breast cancer patients, 79 with inflamed cells of breast patients and 144 controls. The gene polymorphism was detected using the amplification refractory mutation system- polymerase chain reaction method (ARMS-PCR). The distribution of INF-γ T + 874A gene polymorphism shows strong significant association between INF-γ + 874 T/A genotypes TT in BC patients (ORTT: 6.41 [95% CI = 2.72-15.1] P < 0.0001) as well as strong significant association regarding T allele (ORT: 1.99 [95% CI = 1.43-2.76] P < 0.0001) when compared to the healthy control. In ICB group the strong association was noted with INF-γ + 874 T/A genotypes AT genotype (ORAT: 2.28 [95% CI = 1.22-4.29] P = 0.007). From the different histological BC hormonal markers the human epidermal growth factor receptor 2 (HER2) was showing significant association in INF-γ + 874 T/A genotypes TT (P = 0.03) and recessive model (TT versus AA + AT P = 0.03). Concerning different BC prognostic models, the poor prognostic one of luminal B, (ER PR Her2) show significant association in the host INF-γ + 874 T/A genotype (TT, P = 0.03) and recessive model (TT versus AA + AT P = 0.02) when compared to the good prognostic hormonal status luminal A model, (ER PR Her2-ve). It seems that this is the first study that interested in correlate the INF-γ + 874 T/A gene polymorphisms in Egyptian BC patients. T allele, TT genotype and recessive model of the INF-γ + 874 T/A gene variants were documented as risk factors for BC pathogenesis. It may be used as practical biomarker to guide the BC carcinogenesis and risk process.

摘要

根据《2020年全球癌症统计数据》,全球癌症负担组织(GLOBOCAN)估计,女性乳腺癌是最常被诊断出的癌症,估计有230万新发病例(占11.7%),是全球女性癌症死亡的第四大主要原因(占6.9%)。迫切需要鉴定新的诊断标志物以准确表征肿瘤特征。本研究旨在探讨INF-γ +874 T/A基因多态性与不同乳腺癌预后因素的关系。对163例乳腺癌患者、79例乳腺炎症患者和144例对照者进行了多态性检测分析。采用扩增阻滞突变系统-聚合酶链反应法(ARMS-PCR)检测基因多态性。INF-γ T +874A基因多态性分布显示,与健康对照相比,乳腺癌患者中INF-γ +874 T/A基因型TT存在强显著关联(优势比TT:6.41 [95%置信区间=2.72 - 15.1] P < 0.0001),T等位基因也存在强显著关联(优势比:1.99 [95%置信区间=1.43 - 2.76] P < 0.0001)。在炎症性乳腺癌(ICB)组中,发现INF-γ +874 T/A基因型AT存在强关联(优势比AT:2.28 [95%置信区间=1.22 - 4.29] P = 0.007)。在不同组织学类型的乳腺癌激素标志物中,人表皮生长因子受体2(HER2)在INF-γ +874 T/A基因型TT中显示出显著关联(P = 0.03),在隐性模型中(TT与AA + AT相比,P = 0.03)也有显著关联。关于不同的乳腺癌预后模型,与预后良好的激素状态的管腔A型模型(ER PR Her2阴性)相比,预后较差的管腔B型(ER PR Her2)在宿主INF-γ +874 T/A基因型(TT,P = 0.03)和隐性模型(TT与AA + AT相比,P = 0.02)中显示出显著关联。这似乎是第一项关注埃及乳腺癌患者中INF-γ +874 T/A基因多态性相关性的研究。INF-γ +874 T/A基因变异的T等位基因、TT基因型和隐性模型被记录为乳腺癌发病机制的危险因素。它可作为实用的生物标志物来指导乳腺癌的致癌过程和风险评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57fa/8568710/3d380512a564/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57fa/8568710/3d380512a564/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57fa/8568710/3d380512a564/gr1.jpg

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