Influence of polymorphisms on the phenotype of TLR1, TLR4 and TLR9 genes and their association with cervical cancer: Bioinformatics prediction analysis and a case-control study
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View abstract on PubMed
Summary
This summary is machine-generated.Genetic variations in Toll-like receptors (TLRs) are linked to cervical cancer risk. A study found that specific TLR1 gene polymorphisms increase the risk of high-grade intraepithelial lesions and cervical cancer.
Area Of Science
- Immunogenetics
- Oncology
Background
- Toll-like receptors (TLRs) are crucial for innate immunity and their gene polymorphisms may influence cervical cancer development.
- Previous research suggests a link between TLR gene variations and altered immune responses, potentially contributing to cervical cancer susceptibility.
Purpose Of The Study
- To investigate the functional impact of polymorphisms in Toll-like receptor 1 (TLR1), TLR4, and TLR9 genes.
- To assess the association between these TLR gene polymorphisms and the risk of high-grade intraepithelial lesions (HSIL) and cervical cancer in a Brazilian population.
Main Methods
- Utilized bioinformatics tools (MUpro, ChimeraX, SNP2TFBS, GTEx) to predict the functional effects of polymorphisms.
- Conducted a case-control study involving 57 cancer/HSIL cases and 67 healthy controls.
- Genotyped polymorphisms using real-time PCR with TaqMan probes and allelic discrimination.
Main Results
- Bioinformatics analysis indicated that TLR1 rs4833095 and TLR4 rs4986790 polymorphisms affect protein structure and stability.
- TLR9 rs187084 polymorphism was predicted to impact THAP1 binding and gene expression.
- The TLR1 rs4833095 heterozygous genotype (c.743TC) was significantly associated with increased risk for HSIL/cervical cancer.
- No significant association was found for TLR4 rs4986790 and TLR9 rs187084 SNPs individually.
- A combined analysis revealed that the CAG allelic combination (rs4833095/rs4986790/rs187084) elevated cervical cancer risk.
Conclusions
- Polymorphisms in TLR genes can alter gene function and contribute to the development of HSIL and cervical cancer.
- The TLR1 rs4833095 polymorphism is a potential risk factor for HSIL/cervical cancer in the Brazilian population.
- Combined effects of specific TLR polymorphisms may synergistically increase cervical cancer risk.
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