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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,...
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Single Nucleotide Polymorphisms on Toll-like Receptor-4 and the Risk of Developing Skin Cancer.

Nabiha Yusuf1, Noha Sharafeldin2, Mohammad Saleem1

  • 1Department of Dermatology, University of Alabama at Birmingham, 1670 University Boulevard VH566A, Birmingham, AL 35294, USA.

International Journal of Molecular Sciences
|December 17, 2024
PubMed
Summary
This summary is machine-generated.

This study investigated Toll-like receptor-4 (TLR4) single nucleotide polymorphisms (SNPs) and their association with keratinocyte carcinoma risk. While a protective effect was observed for TLR4 SNPs, the findings were not statistically significant in this cohort.

Keywords:
single nucleotide polymorphismsskin cancertoll-like receptor-4

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Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Solar ultraviolet (UV) radiation is a known skin cancer risk factor.
  • Toll-like receptor-4 (TLR4)-mediated immune dysregulation is implicated in UV-induced skin damage and cancer.
  • Single nucleotide polymorphisms (SNPs) in the TLR4 gene may influence cancer susceptibility, but their role in human keratinocyte carcinomas is unclear.

Purpose of the Study:

  • To investigate the association between TLR4 gene SNPs and the risk of developing keratinocyte carcinomas.
  • To explore the potential role of TLR4 genetic variations in skin cancer susceptibility.

Main Methods:

  • A cross-sectional study involving skin cancer patients and controls.
  • Collection of personal history, family history, and environmental factors (sunscreen use, tanning proneness).
  • Genotyping of TLR4 SNPs from peripheral blood DNA and statistical analysis using multivariable logistic regression.

Main Results:

  • The study included 93 skin cancer patients and 94 controls, with 12.9% of cases and 17% of controls carrying a TLR4 SNP.
  • The D299G/T399I SNP was the most common, found in 9.7% of cases and 13.8% of controls.
  • No statistically significant association was found between the D299G/T399I SNP and skin cancer risk (OR = 0.34, p = 0.065), though a trend towards a protective effect was noted.

Conclusions:

  • The study suggests a potential, albeit not statistically significant, protective effect of TLR4 SNPs against skin cancer in the studied cohort.
  • Further validation in larger populations is necessary to confirm these findings.
  • TLR4 genetic variations may warrant further investigation in the context of skin cancer risk assessment.