Risk of cervical squamous cell carcinoma associated with a single nucleotide polymorphism in the RAD18 gene in the Chinese population and its significance as a predictive biomarker

  • 0Department of Gynecology and Obstetrics, The First People's Hospital of Jiande, Hangzhou City, Zhejiang Province, China.

|

|

Summary

This summary is machine-generated.

Genetic variations in the RAD18 gene, specifically rs250403 and rs615967, are linked to increased risk and poorer prognosis in cervical precancer (CIN III) and cervical squamous cell carcinoma (CSCC). These RAD18 polymorphisms may serve as predictive biomarkers for cervical cancer.

Area Of Science

  • Genetics
  • Oncology
  • Molecular Biology

Background

  • RAD18 is a key mismatch repair gene involved in post-replication repair, and its genetic variations are implicated in tumorigenesis.
  • Cervical squamous cell carcinoma (CSCC) and its precursor, CIN III, represent significant health concerns globally.

Purpose Of The Study

  • To investigate the association between RAD18 single nucleotide polymorphisms (SNPs) and the risk of CIN III and CSCC.
  • To evaluate the correlation of RAD18 polymorphisms with clinicopathological features and prognosis in cervical cancer patients.

Main Methods

  • Mismatch amplification PCR was used to analyze 6 RAD18 SNPs in 650 CIN III cases, 580 CSCC cases, and 1320 healthy controls.
  • Haplotype analysis and correlation with clinical data, including prognostic indicators and RAD18 protein expression, were performed.

Main Results

  • Specific genotypes (rs250403 GG, rs615967 GG) and alleles (G allele) of RAD18 were significantly associated with an increased risk of CIN III and CSCC.
  • High-risk haplotypes (AG-GG, GG-AA, GG-AG, GG-GG) of RAD18 rs250403 and rs615967 were identified.
  • RAD18 polymorphisms correlated with tumor differentiation, lymph node metastasis, vascular involvement, and decreased RAD18 protein expression in CSCC.

Conclusions

  • Two RAD18 genetic polymorphisms (rs250403 and rs615967) are associated with both susceptibility and prognosis in CIN III and CSCC.
  • Specific high-risk RAD18 haplotypes can potentially serve as genetic predictive biomarkers for cervical cancer.

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs 01:05

15.9K

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Comparing Copy Number Variations and SNPs 02:26

17.9K

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Genome-wide Association Studies-GWAS 01:11

14.1K

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

The Retinoblastoma Gene 01:20

4.2K

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...