Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study

Daniele Campa, Alessandro Martino, Angelica Macauda, Marek Dudziński, Anna Suska, Agnieszka Druzd-Sitek, Marc-Steffen Raab, Victor Moreno, Stefanie Huhn, Aleksandra Butrym, Juan Sainz, Gergely Szombath, Marcin Rymko, Herlander Marques, Fabienne Lesueur, Annette Juul Vangsted, Ulla Vogel, Marcin Kruszewski, Edyta Subocz, Gabriele BudaElżbieta Iskierka-Jażdżewska, Rafael Ríos, Maximilian Merz, Ben Schöttker, Grzegorz Mazur, Emeline Perrial, Joaquin Martinez-Lopez, Katja Butterbach, Ramón García Sanz, Hartmut Goldschmidt, Hermann Brenner, Krzysztof Jamroziak, Rui Manuel Reis, Katalin Kadar, Charles Dumontet, Marzena Wątek, Eva Kannik Haastrup, Grzegorz Helbig, Artur Jurczyszyn, Andrés Jerez, Judit Varkonyi, Torben Barington, Norbert Grzasko, Jan Maciej Zaucha, Vibeke Andersen, Daria Zawirska, Federico Canzian

Research output: Contribution to journalJournal articleResearchpeer-review


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 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.

Original languageEnglish
JournalLeukemia and Lymphoma
Issue number7
Pages (from-to)1803-1811
Publication statusPublished - Jul 2019


  • Multiple myeloma
  • class switch recombination
  • genetic polymorphisms
  • overall survival
  • progression-free survival
  • susceptibility


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