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弥合健康差距:基于种族的前列腺癌基因组学和转录组学分析。

Bridging Health Disparities: a Genomics and Transcriptomics Analysis by Race in Prostate Cancer.

机构信息

Molecular Pharmacology Section, Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Biostatistics and Data Management Section, Office of the Clinical Director, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

J Racial Ethn Health Disparities. 2024 Feb;11(1):492-504. doi: 10.1007/s40615-023-01534-4. Epub 2023 Feb 21.

Abstract

As the era of cancer genomics expands, disproportionate rates of prostate cancer incidence and mortality by race have demonstrated increasing relevance in clinical settings. While Black men are most particularly affected, as data has historically shown, the opposite is observed for Asian men, thus creating a basis for exploring genomic pathways potentially involved in mediating these opposing trends. Studies on racial differences are limited by sample size, but recent expanding collaborations between research institutions may improve these imbalances to enhance investigations on health disparities from the genomics front. In this study, we performed a race genomics analysis using GENIE v11, released in January 2022, to investigate mutation and copy number frequencies of select genes in both primary and metastatic patient tumor samples. Further, we investigate the TCGA race cohort to conduct an ancestry analysis and to identify differentially expressed genes highly upregulated in one race and subsequently downregulated in another. Our findings highlight pathway-oriented genetic mutation frequencies characterized by race, and further, we identify candidate gene transcripts that have differential expression between Black and Asian men.

摘要

随着癌症基因组学时代的扩展,按种族划分的前列腺癌发病率和死亡率不成比例的情况在临床环境中变得越来越重要。虽然黑人男性受到的影响尤其大,这是历史数据所表明的,但亚洲男性的情况则恰恰相反,这为探索可能参与调节这些相反趋势的基因组途径提供了依据。种族差异的研究受到样本量的限制,但研究机构之间最近扩大的合作可能会改善这些不平衡,从而加强从基因组角度研究健康差异的调查。在这项研究中,我们使用 2022 年 1 月发布的 GENIE v11 进行了种族基因组学分析,以研究原发性和转移性患者肿瘤样本中选定基因的突变和拷贝数频率。此外,我们还研究了 TCGA 种族队列,进行了祖先分析,并确定了在一个种族中高度上调、而在另一个种族中下调的差异表达基因。我们的研究结果突出了以种族为特征的面向途径的遗传突变频率,并进一步确定了在黑人男性和亚洲男性之间表达存在差异的候选基因转录本。

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