Targeted screening and single-cell analysis of genetic variants in melanoma using Mendelian randomization
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Updated: Jun 7, 2026
Screening for Melanoma Modifiers using a Zebrafish Autochthonous Tumor Model
Published on: November 13, 2012
Shi Li1, Kaijiong Zhang1, Guiji Zhang1
1Department of Clinical Laboratory, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Center, Sichuan Cancer Hospital & Institute, University of Electronic Science and Technology of China, Chengdu, 610041, China.
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.
