Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study
Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study
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DOI：
10.1080/10428194.2018.1551536
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发表时间：
2019-06-07
影响因子：
2.6
通讯作者：
Canzian, Federico
中科院分区：
文献类型：
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作者：
Campa, Daniele;Martino, Alessandro;Canzian, Federico
在未成熟 B 细胞向分化浆细胞的成熟过程中起作用的基因的遗传变异可能会影响患多发性骨髓瘤 (MM) 的风险。在 B 细胞成熟过程中，会发生一些程序性遗传重排，以增加免疫球蛋白链的变异。类切换重组（CSR）是这些机制中最重要的机制之一。种系多态性即使是微妙地改变这一过程，也可能在 MM 的病因和结果中发挥作用。我们对来自国际多发性骨髓瘤 rESEarch (IMMEnSE) 联盟、海德堡 MM 小组和 ESTHER 队列的 2632 名多发性骨髓瘤患者和 2848 名对照者进行了一项关键 CSR 基因中 30 个遗传变异的关联研究。我们发现 LIG4-rs1555902 与降低 MM 风险之间存在关联（接近统计显着性），并且 AICDA-rs3794318 与更好的结果之间也存在显着关联。我们的结果增加了我们对多发性骨髓瘤风险和生存的遗传因素的了解。
Genetic variants in genes acting during the maturation process of immature B-cell to differentiated plasma cell could influence the risk of developing multiple myeloma (MM). During B-cell maturation, several programmed genetic rearrangements occur to increase the variation of the immunoglobulin chains. Class switch recombination (CSR) is one of the most important among these mechanisms. Germline polymorphisms altering even subtly this process could play a role in the etiology and outcome of MM. We performed an association study of 30 genetic variants in the key CSR genes, using 2632MM patients and 2848 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium, the Heidelberg MM Group and the ESTHER cohort. We found an association between LIG4-rs1555902 and decreased MM risk, which approached statistical significance, as well as significant associations between AICDA-rs3794318 and better outcome. Our results add to our knowledge on the genetic component of MM risk and survival.