Validation of gene polymorphisms (rs2682818 and rs2043556) in has-miR-618 and has-miR-605 with the breast cancer susceptibility

IF 0.5 Q4 GENETICS & HEREDITY Human Gene Pub Date : 2024-10-09 DOI:10.1016/j.humgen.2024.201343

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Abstract

Background

Breast cancer (BC) is one of the most frequent types of cancer and the second leading cause of cancer-affiliate death among ladies. BC is a heterogeneous sickness that is impacted by environment and genetic elements. Diagnosis in the early stages impacts treatment and patient survival rate. miRNA can play a vital role in BC's early stages of tumorigenesis. Single nucleotide polymorphism (SNP) can cause changes in miRNA expression and function, which are related to the risk of several cancers.

Aim

The goal of this examination is to assess the affiliation among two has-miR-605 (rs2043556A > G) and has-miR-618 (rs2682818 C > A) gene polymorphisms with the risk of BC in the Iranian ladies.

Methods

Our case-control examination assessed two hundred whole blood samples of one hundred ladies with BC and one hundred healthy ladies. Hence, to assess the connection between the presence of SNP miRNA genes and the risk of BC, genotyping was done by the usage of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, then the usage of the Chi-square test of SPSS software statistically analyzed the acquired result.

Results

Our findings confirmed a statistically substantial distinction within the genotype frequency of the has-miR-618 gene polymorphism among the groups (P = 0.043), whereas no statistically substantial distinction inside the genotype frequency of the has-miR-605 gene polymorphism among the control and case (P = 0.183). In addition, the allelic frequency of two polymorphisms, (rs2043556 A > G) G allele (OR = 2.163, CI 95 % = 1.56–2.988, P = 0.022) and (rs2682818 C > A) A allele (OR = 3.997, CI 95 % = 1.584–10.081, P = 0.002) substantially enhance the risk of BC.

Conclusion

The results show that the G allele of rs2043556 and the A allele of rs2682818 increase the risk of BC in the women population of East Azerbaijan province.

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has-miR-618和has-miR-605基因多态性（rs2682818和rs2043556）与乳腺癌易感性的验证

背景乳腺癌（BC）是最常见的癌症类型之一，也是女性死于癌症的第二大原因。乳腺癌是一种受环境和遗传因素影响的异质性疾病。miRNA 在 BC 肿瘤发生的早期阶段起着至关重要的作用。单核苷酸多态性（SNP）可导致 miRNA 表达和功能的改变，而 miRNA 表达和功能的改变与多种癌症的风险有关。方法我们的病例对照研究评估了 100 名 BC 患者和 100 名健康女性的 200 份全血样本。因此，为了评估 SNP miRNA 基因的存在与 BC 风险之间的联系，我们使用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法进行了基因分型，然后使用 SPSS 软件的卡方检验对所得结果进行了统计分析。结果我们的研究结果证实，组间 has-miR-618 基因多态性的基因型频率存在统计学意义上的显著差异（P = 0.043），而对照组和病例组间 has-miR-605 基因多态性的基因型频率没有统计学意义上的显著差异（P = 0.183）。此外，两个多态性的等位基因频率，（rs2043556 A > G）G 等位基因（OR = 2.163，CI 95 % = 1.56-2.988，P = 0.022）和（rs2682818 C > A）A 等位基因（OR = 3.997，CI 95 % = 1.584-10.081，P = 0.结果表明，rs2043556 的 G 等位基因和 rs2682818 的 A 等位基因会增加东阿塞拜疆省妇女患 BC 的风险。

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