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

利用孟德尔随机化方法对黑色素瘤中的遗传变异进行靶向筛查和单细胞分析

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Abstract

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.

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