Al-Eitan Laith N, Al-Ahmad Bashar H, Almomani Fouad A
Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.
Cancers (Basel). 2020 Jan 23;12(2):283. doi: 10.3390/cancers12020283.
Breast cancer (BC) pathogenesis is poorly understood and not yet completely determined. BC susceptibility genes are responsible for 20% to 25% of breast cancer risk. The main objective of this study is to identify the genetic polymorphisms within the Harvey rat sarcoma viral oncogene homolog (HRAS1) and interleukin-1 receptor antagonist (IL1-Ra) genes in Jordanian BC female patients and to investigate the genetic association of these polymorphisms with BC. Samples were collected from 150 Jordanian BC patients and 187 healthy age-matched controls. PCR and PCR-RFLP techniques were used to identify genetic polymorphisms within these candidate genes. The single nucleotide polymorphism single nucleotide polymorphism (SNP) association web tool SNPStats (v. 3.6) was used to investigate the allelic and genotypic association with BC. Different statistical analyses were used to study the correlation between the investigated genetic variants and several prognosis factors of BC. A genetic association between BC susceptibility and Il-1β rs1143634 was found specifically at the allelic level of E1 as a risk allele (72% in the cases vs. 64.2% in the controls). Another genetic association was found in the IL-Ra gene (86-VNTR (variable number tandem repeat)), which presented one repeat allele (24.1% in cases vs. 15.59% in controls) and could be considered as a risk allele in Jordanian women. In contrast, this study found that there is no genetic association between Il-1β SNP rs16944 and BC. In addition, a significant association was found between the allelic level of the HRAS1 gene and BC susceptibility. Since this study is the first to be conducted on the genetic susceptibility of these genes to BC in the Jordanian population, more investigations on the link between BC and these variants are recommended to determine the impact of these polymorphisms on other ethnic groups.
乳腺癌（BC）的发病机制尚未完全明确。乳腺癌易感基因导致了20%至25%的乳腺癌发病风险。本研究的主要目的是确定约旦乳腺癌女性患者中哈维大鼠肉瘤病毒癌基因同源物（HRAS1）和白细胞介素-1受体拮抗剂（IL1-Ra）基因内的基因多态性，并研究这些多态性与乳腺癌的遗传关联。研究收集了150例约旦乳腺癌患者和187例年龄匹配的健康对照者的样本。采用聚合酶链反应（PCR）和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术鉴定这些候选基因内的基因多态性。使用单核苷酸多态性（SNP）关联网络工具SNPStats（v. 3.6）研究等位基因和基因型与乳腺癌的关联。采用不同的统计分析方法研究所调查的基因变异与乳腺癌的几个预后因素之间的相关性。研究发现，乳腺癌易感性与白细胞介素-1β（Il-1β）rs1143634之间存在遗传关联，具体表现为在E1等位基因水平上，该等位基因作为风险等位基因（病例组中为72%，对照组中为64.2%）。在白细胞介素-1受体拮抗剂（IL-Ra）基因（86-可变数目串联重复序列（VNTR））中发现了另一种遗传关联，其中一个重复等位基因（病例组中为24.1%，对照组中为15.59%），在约旦女性中可被视为风险等位基因。相比之下，本研究发现Il-1β单核苷酸多态性rs16944与乳腺癌之间不存在遗传关联。此外，还发现HRAS1基因的等位基因水平与乳腺癌易感性之间存在显著关联。由于本研究是首次针对约旦人群中这些基因对乳腺癌的遗传易感性进行的研究，建议对乳腺癌与这些变异之间的联系进行更多调查，以确定这些多态性对其他种族群体的影响。
