Genetic variants of interleukin-1α, interleukin-12β and matrix metalloproteinase-9 in oral cancer risk and progression

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-09-02 DOI:10.1016/j.genrep.2024.102024

Divya Prasad , Yadvendra Shahi , Vandana Tiwari , Akash Agarwal , Sayali Mukherjee

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引用次数: 0

Abstract

Background

Cytokines and matrix metalloproteinases play an important role in inflammation and metastasis in the development of cancer. Single nucleotide polymorphisms in these genes may affect gene expression and protein activity and, therefore, may be associated with cancer predisposition. The study seeks to examine the correlation between single nucleotide polymorphisms in the cytokines (Interleukin-1α and Interleukin-12β) and Matrix metalloproteinase (MMP9) gene with oral cancer. The interplay of the genetic variants, Interleukin 1α -889 C/T (rs1800587), Interleukin 12β +1188A/B (rs3212227), and MMP9 R279Q (rs17576) with tobacco chewing and smoking habits is determined in patients with oral cancer and controls. The relationship between these genetic variations with the tumor size, lymph node involvement, and metastasis in oral cancer was studied.

Method

Case-control research was implemented with a total of 150 participants, which includes 50 individuals who were diagnosed with oral cancer and 100 healthy volunteers. The study on Single Nucleotide Polymorphism (SNP) was performed using the Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) technique.

Results

Interleukin-1α -889 C/T polymorphism was significantly associated with oral cancer. The heterozygous genotype (CT) IL-1α -899 C/T was most frequent in oral cancer patients with a p value of 0.000002 in the chi-square test with no node involvement or metastasis. No interaction with the smoking or tobacco chewing habit with the genotypes of any of the genes is observed. The genotype of the mutant (TT) was also significantly different among the two groups (p = 0.01, OR = 7.63, CI- 1.5–37.5). The distribution of the mutant RR genotype of MMP9 R279Q in oral cancer patients was statistically significant in comparison with healthy controls (p = 0.005, OR = 4.46, CI- 1.52–3.04). The genotypic variants of IL-12β +1188A/B were, however, not found to be associated with oral cancer risk. IL-1α-899 (CT) and MMP9R279Q (RR) genotypes were found to be significantly associated with tumor size.

Conclusion

This finding indicates that the substitution of C to T at IL-1α-889 position and substitution of glutamine with arginine at amino acid position 279 in MMP9 due to single nucleotide polymorphism increases the risk of oral cancer. IL-12β +1188 polymorphism was not associated with oral cancer risk. Habit does not play any role in the interaction of these genes with oral cancer.

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白细胞介素-1α、白细胞介素-12β和基质金属蛋白酶-9的基因变异与口腔癌风险和进展的关系

背景细胞因子和基质金属蛋白酶在癌症发展过程中的炎症和转移中起着重要作用。这些基因的单核苷酸多态性可能会影响基因表达和蛋白质活性，因此可能与癌症易感性有关。本研究旨在探讨细胞因子（白细胞介素-1α 和白细胞介素-12β）和基质金属蛋白酶（MMP9）基因的单核苷酸多态性与口腔癌的相关性。在口腔癌患者和对照组中确定了白细胞介素 1α -889 C/T (rs1800587) 、白细胞介素 12β +1188A/B (rs3212227) 和 MMP9 R279Q (rs17576) 基因变异与咀嚼烟草和吸烟习惯的相互作用。方法对 150 名参与者进行病例对照研究，其中包括 50 名确诊为口腔癌的患者和 100 名健康志愿者。采用聚合酶链式反应和限制性片段长度多态性（PCR-RFLP）技术对单核苷酸多态性（SNP）进行研究。杂合基因型（CT）IL-1α -899 C/T在口腔癌患者中最为常见，在无结节受累或转移的情况下，其P值为0.000002。吸烟或咀嚼烟草的习惯与任何基因的基因型都没有相互作用。突变体（TT）的基因型在两组中也有显著差异（P = 0.01，OR = 7.63，CI- 1.5-37.5）。与健康对照组相比，口腔癌患者中 MMP9 R279Q 突变 RR 基因型的分布具有统计学意义（p = 0.005，OR = 4.46，CI- 1.52-3.04）。然而，IL-12β +1188A/B的基因型变异与口腔癌风险无关。结论这一发现表明，由于单核苷酸多态性，IL-1α-889 位上的 C 变为 T，以及 MMP9 的 279 位氨基酸上的谷氨酰胺变为精氨酸，都会增加口腔癌的风险。IL-12β +1188多态性与口腔癌风险无关。习惯在这些基因与口腔癌的相互作用中不起作用。

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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.