使用孟德尔随机化对黑色素瘤中的基因变异进行靶向筛查和单细胞分析。
Targeted screening and single-cell analysis of genetic variants in melanoma using Mendelian randomization.
作者信息
Li Shi, Zhang Kaijiong, Zhang Guiji, Shi Min, Yin Xing, Wang Bo
机构信息
Department 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.
Department of Pathology, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Center, Sichuan Cancer Hospital & Institute, University of Electronic Science and Technology of China, Chengdu, 610041, China.
出版信息
Discov Oncol. 2025 Jul 19;16(1):1376. doi: 10.1007/s12672-025-03225-4.
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.
背景
本研究利用孟德尔随机化方法来调查黑色素瘤的流行病学模式和基因变异，以改进疾病的预防和控制。
方法
我们将来自GTEx V8 eQTL和芬兰基因数据库的单核苷酸多态性（SNP）数据相结合，进行孟德尔随机化分析，并对黑色素瘤样本进行单细胞分析。
结果
男性黑色素瘤发病率高于女性，且随年龄增长而增加。像rs12703054这样的关键单核苷酸多态性被确定与黑色素瘤存在因果关联。单细胞分析揭示了肿瘤微环境中的细胞异质性，其中人类白细胞抗原E（HLA-E）、锌指蛋白578（ZNF578）、细胞周期蛋白依赖性激酶4（CDK4）、丝氨酸/精氨酸蛋白激酶2（SRPK2）和四跨膜蛋白31（TSPAN31）被确定为潜在的重要基因。
结论
我们对黑色素瘤的流行病学模式和基因决定因素的综合分析为高危人群的靶向监测提供了证据，并为开发个性化治疗方法奠定了基础。
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