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 Buda & 27 andre Elżbieta 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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.

OriginalsprogEngelsk
TidsskriftLeukemia and Lymphoma
Vol/bind60
Udgave nummer7
Sider (fra-til)1803-1811
ISSN1042-8194
DOI
StatusUdgivet - jul. 2019

Fingeraftryk

Switch Genes
Genetic Polymorphisms
Genetic Association Studies
Plasma Cells
Research

Citer dette

Campa, D., Martino, A., Macauda, A., Dudziński, M., Suska, A., Druzd-Sitek, A., ... Canzian, F. (2019). Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study. Leukemia and Lymphoma, 60(7), 1803-1811. https://doi.org/10.1080/10428194.2018.1551536
Campa, Daniele ; Martino, Alessandro ; Macauda, Angelica ; Dudziński, Marek ; Suska, Anna ; Druzd-Sitek, Agnieszka ; Raab, Marc-Steffen ; Moreno, Victor ; Huhn, Stefanie ; Butrym, Aleksandra ; Sainz, Juan ; Szombath, Gergely ; Rymko, Marcin ; Marques, Herlander ; Lesueur, Fabienne ; Vangsted, Annette Juul ; Vogel, Ulla ; Kruszewski, Marcin ; Subocz, Edyta ; Buda, Gabriele ; Iskierka-Jażdżewska, Elżbieta ; Ríos, Rafael ; Merz, Maximilian ; Schöttker, Ben ; Mazur, Grzegorz ; Perrial, Emeline ; Martinez-Lopez, Joaquin ; Butterbach, Katja ; García Sanz, Ramón ; Goldschmidt, Hartmut ; Brenner, Hermann ; Jamroziak, Krzysztof ; Reis, Rui Manuel ; Kadar, Katalin ; Dumontet, Charles ; Wątek, Marzena ; Haastrup, Eva Kannik ; Helbig, Grzegorz ; Jurczyszyn, Artur ; Jerez, Andrés ; Varkonyi, Judit ; Barington, Torben ; Grzasko, Norbert ; Zaucha, Jan Maciej ; Andersen, Vibeke ; Zawirska, Daria ; Canzian, Federico. / Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival : an IMMEnSE study. I: Leukemia and Lymphoma. 2019 ; Bind 60, Nr. 7. s. 1803-1811.
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title = "Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study",
abstract = "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.",
keywords = "Multiple myeloma, class switch recombination, genetic polymorphisms, overall survival, progression-free survival, susceptibility",
author = "Daniele Campa and Alessandro Martino and Angelica Macauda and Marek Dudziński and Anna Suska and Agnieszka Druzd-Sitek and Marc-Steffen Raab and Victor Moreno and Stefanie Huhn and Aleksandra Butrym and Juan Sainz and Gergely Szombath and Marcin Rymko and Herlander Marques and Fabienne Lesueur and Vangsted, {Annette Juul} and Ulla Vogel and Marcin Kruszewski and Edyta Subocz and Gabriele Buda and Elżbieta Iskierka-Jażdżewska and Rafael R{\'i}os and Maximilian Merz and Ben Sch{\"o}ttker and Grzegorz Mazur and Emeline Perrial and Joaquin Martinez-Lopez and Katja Butterbach and {Garc{\'i}a Sanz}, Ram{\'o}n and Hartmut Goldschmidt and Hermann Brenner and Krzysztof Jamroziak and Reis, {Rui Manuel} and Katalin Kadar and Charles Dumontet and Marzena Wątek and Haastrup, {Eva Kannik} and Grzegorz Helbig and Artur Jurczyszyn and Andr{\'e}s Jerez and Judit Varkonyi and Torben Barington and Norbert Grzasko and Zaucha, {Jan Maciej} and Vibeke Andersen and Daria Zawirska and Federico Canzian",
year = "2019",
month = "7",
doi = "10.1080/10428194.2018.1551536",
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pages = "1803--1811",
journal = "Leukemia and Lymphoma",
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publisher = "Taylor & Francis",
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Campa, D, Martino, A, Macauda, A, Dudziński, M, Suska, A, Druzd-Sitek, A, Raab, M-S, Moreno, V, Huhn, S, Butrym, A, Sainz, J, Szombath, G, Rymko, M, Marques, H, Lesueur, F, Vangsted, AJ, Vogel, U, Kruszewski, M, Subocz, E, Buda, G, Iskierka-Jażdżewska, E, Ríos, R, Merz, M, Schöttker, B, Mazur, G, Perrial, E, Martinez-Lopez, J, Butterbach, K, García Sanz, R, Goldschmidt, H, Brenner, H, Jamroziak, K, Reis, RM, Kadar, K, Dumontet, C, Wątek, M, Haastrup, EK, Helbig, G, Jurczyszyn, A, Jerez, A, Varkonyi, J, Barington, T, Grzasko, N, Zaucha, JM, Andersen, V, Zawirska, D & Canzian, F 2019, 'Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study', Leukemia and Lymphoma, bind 60, nr. 7, s. 1803-1811. https://doi.org/10.1080/10428194.2018.1551536

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

I: Leukemia and Lymphoma, Bind 60, Nr. 7, 07.2019, s. 1803-1811.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival

T2 - an IMMEnSE study

AU - Campa, Daniele

AU - Martino, Alessandro

AU - Macauda, Angelica

AU - Dudziński, Marek

AU - Suska, Anna

AU - Druzd-Sitek, Agnieszka

AU - Raab, Marc-Steffen

AU - Moreno, Victor

AU - Huhn, Stefanie

AU - Butrym, Aleksandra

AU - Sainz, Juan

AU - Szombath, Gergely

AU - Rymko, Marcin

AU - Marques, Herlander

AU - Lesueur, Fabienne

AU - Vangsted, Annette Juul

AU - Vogel, Ulla

AU - Kruszewski, Marcin

AU - Subocz, Edyta

AU - Buda, Gabriele

AU - Iskierka-Jażdżewska, Elżbieta

AU - Ríos, Rafael

AU - Merz, Maximilian

AU - Schöttker, Ben

AU - Mazur, Grzegorz

AU - Perrial, Emeline

AU - Martinez-Lopez, Joaquin

AU - Butterbach, Katja

AU - García Sanz, Ramón

AU - Goldschmidt, Hartmut

AU - Brenner, Hermann

AU - Jamroziak, Krzysztof

AU - Reis, Rui Manuel

AU - Kadar, Katalin

AU - Dumontet, Charles

AU - Wątek, Marzena

AU - Haastrup, Eva Kannik

AU - Helbig, Grzegorz

AU - Jurczyszyn, Artur

AU - Jerez, Andrés

AU - Varkonyi, Judit

AU - Barington, Torben

AU - Grzasko, Norbert

AU - Zaucha, Jan Maciej

AU - Andersen, Vibeke

AU - Zawirska, Daria

AU - Canzian, Federico

PY - 2019/7

Y1 - 2019/7

N2 - 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.

AB - 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.

KW - Multiple myeloma

KW - class switch recombination

KW - genetic polymorphisms

KW - overall survival

KW - progression-free survival

KW - susceptibility

U2 - 10.1080/10428194.2018.1551536

DO - 10.1080/10428194.2018.1551536

M3 - Journal article

VL - 60

SP - 1803

EP - 1811

JO - Leukemia and Lymphoma

JF - Leukemia and Lymphoma

SN - 1042-8194

IS - 7

ER -