BackgroundThis study utilizes Mendelian randomization to investigate melanoma's epidemiological patterns and genetic variants for improved disease prevention and control.MethodsWe combined SNP data from GTEx V8 eQTL and FinnGen databases for Mendelian randomization analysis, and performed single-cell analysis on melanoma samples.ResultsMelanoma 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.ConclusionOur 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.
第一作者机构：[1]Univ Elect Sci & Technol China, Sichuan Canc Hosp & Inst, Sichuan Canc Ctr, Dept Clin Lab,Sichuan Clin Res Ctr Canc, Chengdu 610041, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Li Shi,Zhang Kaijiong,Zhang Guiji,et al.Targeted screening and single-cell analysis of genetic variants in melanoma using Mendelian randomization[J].DISCOVER ONCOLOGY.2025,16(1):doi:10.1007/s12672-025-03225-4.
APA：
Li, Shi,Zhang, Kaijiong,Zhang, Guiji,Shi, Min,Yin, Xing&Wang, Bo.(2025).Targeted screening and single-cell analysis of genetic variants in melanoma using Mendelian randomization.DISCOVER ONCOLOGY,16,(1)
MLA：
Li, Shi,et al."Targeted screening and single-cell analysis of genetic variants in melanoma using Mendelian randomization".DISCOVER ONCOLOGY 16..1(2025)
