评估伊朗东南部女性样本中PD-1（Rs11568821、Rs2227981、Rs2227982）和PD-L1（Rs4143815、Rs2890658）基因多态性与乳腺癌易感性之间的可能关联。
Evaluating the Possible Association between PD-1 (Rs11568821, Rs2227981, Rs2227982) and PD-L1 (Rs4143815, Rs2890658) Polymorphisms and Susceptibility to Breast Cancer in a Sample of Southeast Iranian Women.
作者信息
Karami Shima, Sattarifard Hedieh, Kiumarsi Mohammad, Sarabandi Sahel, Taheri Mohsen, Hashemi Mohammad, Bahari Gholamreza, Ghavami Saeid
机构信息
Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Human Anatomy and Cell Science, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 3P4, Canada.
出版信息
Asian Pac J Cancer Prev. 2020 Oct 1;21(10):3115-3123. doi: 10.31557/APJCP.2020.21.10.3115.
INTRODUCTION
Programmed cell death-1 (PD-1) and its ligands (PD-L1 and PD-L2) play a critical role as a regulator of immune-system cells, including T cell, natural killer T (NKT), monocytes, dendritic cells (DC), and B cells.
OBJECTIVE
This study aimed to find a possible association between PD-1 (rs11568821, rs2227981, rs2227982), and PD-L1 (rs4143815, rs2890658) variants and Breast Cancer (BC) risk in a sample of southeast Iranian women.
METHOD
The case-control study consisted of 520 individuals, including 260 histologically confirmed BC patients and 260 non-cancer age-matching healthy women as the control group. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction (T-ARMS-PCR) methods were used for genotyping of PD-1 (rs11568821, rs2227981, rs2227982), and PD-L1 (rs4143815, rs2890658) polymorphisms.
RESULTS AND CONCLUSION
Our findings indicated that the PD-L1 rs4143815 (G/C) variant meaningfully reduced the risk of BC. However, the PD-L1 rs2890658 variant increased the BC risk in the AC genotype as well as the A allele. Furthermore, we could not find a meaningful association between PD-1 rs11568821, PD-1 rs2227981, PD-1 rs2227982, and BC. Our team examined the possible association between variants and clinicopathological characteristics, including age, size of tumour, lymph node, histology, grade of tumour, estrogen and progesterone receptors status as well as human growth factor receptor 2 (HER2). Our findings demonstrated that PD-L1 rs4143815, PD-L1 rs2890658, PD-1 rs2227982 had a significant association with age. Additionally, we found a significant relation between PD-1 rs2227982 variant and tumour size. Statistical analyzes of PD-1 rs2227981 and PD-1 rs11568821 variants showed a meaningful relation between tumour grade and tumour stage (p=0.006), respectively.
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引言
程序性细胞死亡蛋白1（PD - 1）及其配体（PD - L1和PD - L2）作为免疫系统细胞的调节因子发挥着关键作用，这些免疫系统细胞包括T细胞、自然杀伤T细胞（NKT）、单核细胞、树突状细胞（DC）和B细胞。
目的
本研究旨在探寻伊朗东南部女性样本中PD - 1（rs11568821、rs2227981、rs2227982）和PD - L1（rs4143815、rs2890658）基因变体与乳腺癌（BC）风险之间可能存在的关联。
方法
病例对照研究包含520名个体，其中260名经组织学确诊为BC患者，260名年龄匹配的非癌症健康女性作为对照组。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）和四引物扩增阻滞突变系统 - 聚合酶链反应（T - ARMS - PCR）方法对PD - 1（rs11568821、rs2227981、rs2227982）和PD - L1（rs4143815、rs2890658）基因多态性进行基因分型。
结果与结论
我们的研究结果表明，PD - L1 rs4143815（G/C）变体显著降低了BC风险。然而，PD - L1 rs2890658变体在AC基因型以及A等位基因中增加了BC风险。此外，我们未发现PD - 1 rs11568821、PD - 1 rs2227981、PD - 1 rs2227982与BC之间存在显著关联。我们的团队研究了这些变体与临床病理特征之间的可能关联，这些特征包括年龄、肿瘤大小、淋巴结、组织学、肿瘤分级、雌激素和孕激素受体状态以及人类生长因子受体2（HER2）。我们的研究结果表明，PD - L1 rs4143815、PD - L1 rs2890658、PD - 1 rs2227982与年龄存在显著关联。此外，我们发现PD - 1 rs2227982变体与肿瘤大小之间存在显著关系。对PD - 1 rs2227981和PD - 1 rs11568821变体的统计分析分别显示肿瘤分级与肿瘤分期之间存在显著关系（p = 0.006）。
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