Division of Genetics and Epidemiology, The Institute of Cancer Research, London, SW7 3RP, UK.
Department of Laboratory Medicine, Lund University, SE-221 84, Lund, Sweden.
Nat Commun. 2024 Aug 5;15(1):6644. doi: 10.1038/s41467-024-50932-7.
Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal mechanisms for inherited MM risk: longer telomeres; and elevated levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in plasma. The largest increase in BCMA and IL5RA levels is mediated by the risk variant rs34562254-A at TNFRSF13B. While individuals with loss-of-function variants in TNFRSF13B develop B-cell immunodeficiency, rs34562254-A exerts a gain-of-function effect, increasing MM risk through amplified B-cell responses. Our results represent an analysis of genetic MM predisposition, highlighting causal mechanisms contributing to MM development.
多发性骨髓瘤(MM)是一种不可治愈的浆细胞恶性肿瘤。流行病学研究表明,多发性骨髓瘤存在很大程度的遗传因素,但潜在机制仍不清楚。在这里,在一项总计包含 10906 例病例和 366221 例对照的全基因组关联研究中,我们确定了 35 个 MM 风险位点,其中 12 个是新发现的。通过功能精细映射和孟德尔随机化,我们揭示了两种遗传性 MM 风险的因果机制:端粒较长;以及血浆中 B 细胞成熟抗原(BCMA)和白细胞介素 5 受体 alpha(IL5RA)水平升高。BCMA 和 IL5RA 水平的最大升高是由 TNFRSF13B 上的风险变异 rs34562254-A 介导的。虽然 TNFRSF13B 丧失功能变异的个体可能会出现 B 细胞免疫缺陷,但 rs34562254-A 会产生获得性功能效应,通过放大 B 细胞反应增加 MM 风险。我们的研究结果代表了对遗传 MM 易感性的分析,突出了导致 MM 发展的因果机制。