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TitleGenetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study
Author(s)Campa, Daniele
Martino, Alessandro
Macauda, Angelica
Dudziński, Marek
Suska, Anna
Druzd-Sitek, Agnieszka
Raab, Marc-Steffen
Moreno, Victor
Huhn, Stefanie
Reis, R. M.
et. al.
KeywordsMultiple myeloma
Classswitch recombination
Genetic polymorphisms
Overall survival
Progression-free survival
Issue dateJul-2019
PublisherTaylor and Francis
JournalLeukemia & Lymphoma
CitationCampa, D., Martino, A., Macauda, A., et. al. (2019). Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study. Leukemia & lymphoma, 60(7), 1803-1811.
Abstract(s)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.
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Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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