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解析多发性骨髓瘤易感性的遗传学和机制。

Deciphering the genetics and mechanisms of predisposition to multiple myeloma.

机构信息

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.

出版信息

Nat Commun. 2024 Aug 5;15(1):6644. doi: 10.1038/s41467-024-50932-7.

Abstract

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.

摘要

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。

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