不确定潜能克隆造血（CHIP）已成为血液恶性肿瘤的重要前兆，并与多种年龄相关疾病相关。我们利用公共数据来探索男性和女性以及不同种族人群之间 CHIP 突变情况的差异。 DNMT3A 突变在女性中比男性中更为普遍（38.94% vs. 31.37%，p 值：<0.001，q 值：<0.001）。而 ASXL1 突变在男性中比女性更常见（5.82% vs 2.69%，p 值：<0.001，q 值：<0.001）。在样本量足够的种族队列中，STAT5B 和 CSF1R 突变在亚洲人中最常见（1.40% 和 0.84%），其次是黑人（0.98% 和 0.24%）和白人（0.29% 和 0.09%），（p-值：0.001 和 0.001，q 值：0.023 和 0.023）。其他几种 CHIP 突变在黑人中也很丰富：RARA、SMAD2、CDKN1B、CENPA、CTLA4、EIF1AX、ELF3、MSI1、MYC、SOX17、AURKA。另一方面，H3C1、H3C4、MYCL 在亚洲人群中丰富。我们的分析强调了癌症患者 CHIP 突变的性别和种族差异。随着 CHIP 作为恶性肿瘤和其他疾病的重要先兆不断获得认可，了解这些差异如何影响 CHIP 的潜在机制和临床意义至关重要。版权所有 © 2024。由 Elsevier Inc. 出版。

Clonal hematopoiesis of indeterminate potential (CHIP) has emerged as a significant precursor to hematological malignancies and is associated with several age-related diseases. We leveraged public data to explore differences in the mutational landscape of CHIP between males and females and across diverse racial populations. DNMT3A mutations were substantially more prevalent in females than in males (38.94% vs. 31.37%, p-value: <0.001, q-value: <0.001). While ASXL1 mutations were more frequent in males than females (5.82% vs 2.69%, p-value: <0.001, q-value: <0.001). In the racial cohorts with sufficient sample sizes, STAT5B and CSF1R mutations were most frequent in Asian (1.40% and 0.84%), followed by Black (0.98% and 0.24%) and White populations (0.29% and 0.09%), (p-value: 0.001 and 0.001, q-value: 0.023 and 0.023). Several other CHIP mutations were enriched in Black: RARA, SMAD2, CDKN1B, CENPA, CTLA4, EIF1AX, ELF3, MSI1, MYC, SOX17, AURKA. On the other hand, H3C1, H3C4, MYCL were enriched in the Asian cohort. Our analysis highlights sex and racial differences in the CHIP mutations among patients with cancer. As CHIP continues to gain recognition as a critical precursor to malignancies and other diseases, understanding how these differences contribute to CHIP underlying mechanisms and clinical implications is critical.Copyright © 2024. Published by Elsevier Inc.