Investigating the Rrelationship between polymorphisms pd1.9 and rs7421861 of PD1 gene with breast cancer

IF 1 Q4 GENETICS & HEREDITY Gene Reports Pub Date : 2024-11-20 DOI:10.1016/j.genrep.2024.102096

Mehdi Kakavandi , Mahdi Hassani Bafrani , Javad Amini Mahabadi , Hassan Hassani Bafrani

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Abstract

Introduction

PD1 molecule is a regulatory protein in the immune system that is responsible for the negative induction of active T cells. The PD1 gene has many single nucleotide polymorphisms. In this study, the association of polymorphisms in the pd1.9 and rs7421861 positions of the PD1 gene with breast cancer was investigated in women with breast cancer.

Materials and methods

This experimental study was done in healthy (n = 110) and breast cancer (n = 110) women. First, 2 ml of blood were taken from groups, and the genome of white blood cells (WBCs) was extracted using a DNA extraction kit. The genotype of samples was determined in pd1.9 and rs7421861 region of PD1 gene with the help of PCR-RFLP technique. Data analysis was done by SPSS software version 19.

Results

The analysis of the data about pd1.9 polymorphism genotypes demonstrated that the frequency of CC genotype in the control group was equal to 92.7 %; while this amount was reported as 80 % in the patient group. Regarding the CT genotype, its frequency was 19.1 % in the patient group, while this rate was 7.3 % in the control group. Also, the data showed that the frequency of TT allele is 0.9 % in the patient group and 0 % in healthy people. In the case of rs7421861, the frequency of TT genotype in the control group was equal to 56.4 %, while this rate was equal to 41.8 % in the patient group. Regarding the CT genotype, its frequency in the patient group was 48.2 %, while this rate was 36.4 % in the control group. The frequency of CC allele is 10 % in the patient group and 7.3 % in healthy people.

Conclusion

The results showed that polymorphism of pd1.9 and rs7421861 in PD1 gene cannot be related to breast cancer. Therefore, determining the genotype of polymorphism in these gene regions will not be useful for screening affected people.

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探讨 PD1 基因多态性 pd1.9 和 rs7421861 与乳腺癌的关系

导言PD1 分子是免疫系统中的一种调节蛋白，负责对活性 T 细胞进行负诱导。PD1 基因有许多单核苷酸多态性。本研究调查了乳腺癌妇女 PD1 基因 pd1.9 和 rs7421861 位点的多态性与乳腺癌的关系。首先，各组抽取 2 毫升血液，使用 DNA 提取试剂盒提取白细胞基因组。利用 PCR-RFLP 技术测定样本在 PD1 基因 pd1.9 和 rs7421861 区域的基因型。结果 pd1.9 多态性基因型的数据分析显示，对照组中 CC 基因型的频率为 92.7%，而患者组中这一比例为 80%。至于 CT 基因型，其频率在患者组中为 19.1%，而在对照组中为 7.3%。数据还显示，TT 等位基因在患者组中的频率为 0.9%，而在健康人群中的频率为 0%。就 rs7421861 而言，TT 基因型在对照组中的频率为 56.4%，而在患者组中的频率为 41.8%。至于 CT 基因型，其在患者组中的频率为 48.2%，而在对照组中的频率为 36.4%。结果表明，PD1 基因中的 pd1.9 多态性和 rs7421861 与乳腺癌无关。因此，确定这些基因区域多态性的基因型对筛查患者没有帮助。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.