a Department of Biology , University of Pisa , Pisa , Italy.
b Genomic Epidemiology Group, German Cancer Research Center (DKFZ) , Heidelberg , Germany.
Leuk Lymphoma. 2019 Jul;60(7):1803-1811. doi: 10.1080/10428194.2018.1551536. Epub 2019 Jan 11.
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 2632 MM 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 -rs1555902 and decreased MM risk, which approached statistical significance, as well as significant associations between rs3794318 and better outcome. Our results add to our knowledge on the genetic component of MM risk and survival.
在未成熟 B 细胞向分化浆细胞成熟过程中起作用的基因中的遗传变异可能会影响多发性骨髓瘤（MM）的发病风险。在 B 细胞成熟过程中，会发生几种程序性遗传重排，以增加免疫球蛋白链的变异。类别转换重组（CSR）是这些机制中最重要的机制之一。即使这种过程发生细微改变的种系多态性也可能在 MM 的病因和结局中发挥作用。我们使用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 MM 患者和 2848 名对照，对关键 CSR 基因中的 30 个遗传变异进行了关联研究。我们发现 -rs1555902 与 MM 风险降低之间存在关联，接近统计学意义，并且 rs3794318 与更好的预后之间存在显著关联。我们的结果增加了我们对 MM 风险和生存的遗传成分的认识。
