Barseghyan Luiza, Chan Samuel, Yamauchi Celina R, Shields Andrea, Perez Mia C, Simental Alfred A, Khan Salma
Center for Health Disparities, Loma Linda University, Loma Linda, CA 92350, USA.
Department of Pathology and Human Anatomy, Loma Linda University, Loma Linda, CA 92350, USA.
Curr Oncol. 2025 May 29;32(6):315. doi: 10.3390/curroncol32060315.
Papillary thyroid cancer (PTC) is the most common thyroid malignancy, with significant racial/ethnic disparities in incidence and survival. Asians have the highest incidence, and recurrence, while African Americans experience the lowest survival rates, suggesting contributions from genetic, environmental, and healthcare-related factors. While socioeconomic disparities play a role, emerging evidence highlights genetic and molecular mechanisms underlying these differences. This study examines differentially expressed genes (DEGs) to identify potential molecular drivers of PTC disparities. Bulk RNA-sequencing (RNA-seq) data from 20 PTC tumors (5 White, 5 African American, 5 Hispanic, and 5 Asian) were analyzed using the UseGalaxy platform. Preprocessing included quality control, adapter trimming, and genome alignment. Differential expression analysis identified genes with < 0.01 and fold change ≥ 2.5. Volcano plots visualized significant DEGs. Gene Set Enrichment Analysis (GSEA) via eVITTA identified enriched pathways. TCGA data analysis validated racial/ethnic differences in gene expression. Ethnic groups exhibited distinct gene expression profiles. GSEA revealed differences in cell proliferation, immune regulation, and thyroid hormone metabolism. African Americans showed immune suppression and reduced tumor suppressor activity, while Asians exhibited enriched cell cycle and DNA repair pathways. Significant differences were confirmed in some of the genes in TCGA data analysis. This study identifies genetic factors contributing to racial disparities in PTC, emphasizing the need for further validation in larger cohorts and functional studies. Understanding these molecular differences may inform personalized treatment strategies and improve PTC outcomes across diverse populations.
乳头状甲状腺癌（PTC）是最常见的甲状腺恶性肿瘤，在发病率和生存率方面存在显著的种族/民族差异。亚洲人的发病率和复发率最高，而非洲裔美国人的生存率最低，这表明遗传、环境和医疗保健相关因素都有影响。虽然社会经济差异起到了一定作用，但新出现的证据突出了这些差异背后的遗传和分子机制。本研究通过检测差异表达基因（DEG）来确定PTC差异的潜在分子驱动因素。使用UseGalaxy平台分析了来自20个PTC肿瘤（5名白人、5名非洲裔美国人、5名西班牙裔和5名亚洲人）的批量RNA测序（RNA-seq）数据。预处理包括质量控制、接头修剪和基因组比对。差异表达分析确定了P值<0.01且倍数变化≥2.5的基因。火山图直观显示了显著的DEG。通过eVITTA进行的基因集富集分析（GSEA）确定了富集的通路。TCGA数据分析验证了基因表达的种族/民族差异。不同种族群体表现出不同的基因表达谱。GSEA揭示了细胞增殖、免疫调节和甲状腺激素代谢方面的差异。非洲裔美国人表现出免疫抑制和肿瘤抑制活性降低，而亚洲人则表现出富集的细胞周期和DNA修复通路。TCGA数据分析在一些基因中证实了显著差异。本研究确定了导致PTC种族差异的遗传因素，强调需要在更大的队列和功能研究中进行进一步验证。了解这些分子差异可能为个性化治疗策略提供依据，并改善不同人群的PTC治疗效果。
