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Background <p>This study utilizes Mendelian randomization to investigate melanoma’s epidemiological patterns and genetic variants for improved disease prevention and control.</p> Methods <p>We combined SNP data from GTEx V8 eQTL and FinnGen databases for Mendelian randomization analysis, and performed single-cell analysis on melanoma samples.</p> Results <p>Melanoma rates were higher in men than women and increased with age. Key SNPs like rs12703054 were identified as causally associated with melanoma. Single-cell analysis revealed cellular heterogeneity in the tumor microenvironment, with HLA-E, ZNF578, CDK4, SRPK2, and TSPAN31 identified as potentially significant genes.</p> Conclusion <p>Our integrated analysis of epidemiological patterns and genetic determinants of melanoma provides evidence for targeted surveillance of high-risk populations and establishes groundwork for developing personalized treatment approaches.</p>

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Targeted screening and single-cell analysis of genetic variants in melanoma using Mendelian randomization

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年7月19日

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  • Shi Li,
  • Kaijiong Zhang,
  • Guiji Zhang,
  • Min Shi,
  • Xing Yin,
  • Bo Wang

摘要

Background

This study utilizes Mendelian randomization to investigate melanoma’s epidemiological patterns and genetic variants for improved disease prevention and control.

Methods

We combined SNP data from GTEx V8 eQTL and FinnGen databases for Mendelian randomization analysis, and performed single-cell analysis on melanoma samples.

Results

Melanoma rates were higher in men than women and increased with age. Key SNPs like rs12703054 were identified as causally associated with melanoma. Single-cell analysis revealed cellular heterogeneity in the tumor microenvironment, with HLA-E, ZNF578, CDK4, SRPK2, and TSPAN31 identified as potentially significant genes.

Conclusion

Our integrated analysis of epidemiological patterns and genetic determinants of melanoma provides evidence for targeted surveillance of high-risk populations and establishes groundwork for developing personalized treatment approaches.