Rymko, Marcin
Mayo Clinic
Department of Haematology and Bone Marrow Transplantation, SSM im. M. Kopernika, Torun, Poland.
Citations 2
Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma?
Macauda, Angelica , Clay‐Gilmour, Alyssa , Hielscher, Thomas , Kruszewski, Marcin , Orlowski, Robert Z. , Kumar, Shaji , Ziv, Elad , Brown, Elizabeth E. , Waller, Rosalie G. , Machiela, Mitchell J. , Camp, Nicola J. , Raźny, Małgorzata , Várkonyi, Judit , Piredda, Chiara , Pelosini, Matteo , Belachew, Alem A. , Rybicka‐Ramos, Malwina, Goldschmidt, Hartmut , Tomczak, Waldemar , Sáinz, Juan , Butrym, Aleksandra , Wątek, Marzena , Iskierka‐Jazdzewska, Elżbieta , Buda, Gabriele , Robinson, Dennis P. , Dudziński, Marek , Martínez‐López, Joaquín , Reis, Rui Manuel , Weinhold, Niels , Bhatti, Parveen , Carvajal‐Carmona, Luis G. , Zawirska, Daria , Mazur, Grzegorz , Berndt, Sonja I. , Campa, Daniele , Vachon, Celine M. , Martinez-Lopez, Joaquin , Griffin, R. L. , Kruszewski, Marcin , Orlowski, Robert Z. , Kumar, Shaji K , Ziv, Elad , Försti, Asta , Waller, Rosalie G , Machiela, Mitchell J , Chanock, Stephen Jacob , Camp, Nicola J , Rymko, Marcin , Raźny, Małgorzata , Cozen, Wendy , Piredda, Chiara , Pelosini, Matteo , Belachew, Alem A , Subocz, Edyta , Giles, Graham G , Milne, Roger L , Zaucha, Jan Maciej , Vangsted, Annette Juul , Goldschmidt, Hartmut , Rajkumar, S Vincent , Tomczak, Waldemar , Sainz, Juan , Watek, Marzena , Iskierka-Jazdzewska, Elżbieta , Buda, Gabriele , Dudziński, Marek , Martinez-Lopez, Joaquin , Sinnwell, Jason P , Slager, Susan L , Reis, Rui Manuel , Weinhold, Niels , Bhatti, Parveen , Carvajal-Carmona, Luis G , Zawirska, Daria , Mazur, Grzegorz , Berndt, Sonja I , Vachon, Celine M. , Canzian, Federico , Martinez-Lopez, Joaquin , Butrym, Aleksandra , Griffin, Rosalie , Hildebrandt, Michelle A.T. , Orciuolo, Enrico , Försti, Asta , Rymko, Marcin , Cozen, Wendy , Subocz, Edyta , Hemminki, Kari , Giles, Graham G. , Milne, Roger L. , Hofmann, Jonathan N. , Zaucha, Jan Maciej , Rajkumar, S. Vincent , Jurczyszyn, Artur , Sinnwell, Jason P. , Slager, Susan L. , Jamroziak, Krzysztof , Norman, Aaron D. , Canzian, Federico
Cancer Epidemiology, Biomarkers & Prevention | June 14, 2022 | Volume: 31 | Issue: 9 | Pages: 1863-1866
Abstract Background: Genome-wide association studies (GWAS) of multiple myeloma in populations of European ancestry (EA) identified and confirmed 24 susceptibility loci. For other cancers (e.g., colorectum and melanoma), risk loci have also been associated with patient survival. Methods: We explored the possible association of all the known risk variants and their polygenic risk score (PRS) with multiple myeloma overall survival (OS) in multiple populations of EA [the International Multiple Myeloma rESEarch (IMMEnSE) consortium, the International Lymphoma Epidemiology consortium, CoMMpass, and the German GWAS] for a total of 3,748 multiple myeloma cases. Cox proportional hazards regression was used to assess the association between each risk SNP with OS under the allelic and codominant models of inheritance. All analyses were adjusted for age, sex, country of origin (for IMMEnSE) or principal components (for the others) and disease stage (ISS). SNP associations were meta-analyzed. Results: SNP associations were meta-analyzed. From the meta-analysis, two multiple myeloma risk SNPs were associated with OS (P < 0.05), specifically POT1-AS1-rs2170352 [HR = 1.37; 95% confidence interval (CI) = 1.09–1.73; P = 0.007] and TNFRSF13B-rs4273077 (HR = 1.19; 95% CI = 1.01–1.41; P = 0.04). The association between the combined 24 SNP MM-PRS and OS, however, was not significant. Conclusions: Overall, our results did not support an association between the majority of multiple myeloma risk SNPs and OS. Impact: This is the first study to investigate the association between multiple myeloma PRS and OS in multiple myeloma.
Expression quantitative trait loci of genes predicting outcome are associated with survival of multiple myeloma patients
Macauda, Angelica , Piredda, Chiara , Clay‐Gilmour, Alyssa , Sáinz, Juan , Buda, Gabriele , Markiewicz, Mirosław , Barington, Torben , Ziv, Elad , Hildebrandt, Michelle A.T. , Belachew, Alem A. , Várkonyi, Judit , Prejzner, Witold , Druzd‐Sitek, Agnieszka , Spinelli, John J. , Andersen, Niels Frost, Dudziński, Marek , Martínez‐López, Joaquín , Iskierka‐Jazdzewska, Elżbieta , Mazur, Grzegorz , Ebbesen, Lene Hyldahl, Rymko, Marcin , Subocz, Edyta , Reis, Rui Manuel , García‐Sánz, Ramón , Suska, Anna , Haastrup, Eva, Zawirska, Daria , Grząśko, Norbert , Kruszewski, Marcin , Dutka, Magdalena , Camp, Nicola J. , Waller, Rosalie, Pelosini, Matteo , Raźny, Małgorzata , Abildgaard, Niels , Wątek, Marzena , Brown, Elizabeth E. , Berndt, Sonja I. , Butrym, Aleksandra , Vachon, Celine M. , Gemignani, Federica , Campa, Daniele , Martinez-Lopez, Joaquin , Waller, Rosalie G. , Griffin, R. L. , Canzian, Federico , Campa, Daniele , Martinez-Lopez, Joaquin , Butrym, Aleksandra , Reis, Rui Manuel , Garcia-Sanz, Ramon , Ziv, Elad , Waller, Rosalie G , Rymko, Marcin , Subocz, Edyta , Tomczak, Waldemar , Sainz, Juan , Watek, Marzena , Iskierka-Jazdzewska, Elżbieta , Martinez-Lopez, Joaquin , Mazur, Grzegorz , Hildebrandt, Michelle A T , Markiewicz, Miroslaw , Macauda, Angelica , Griffin, Rosalie , Hofmann, Jonathan N. , Milne, Roger L. , Giles, Graham G. , Jamroziak, Krzysztof , Vangsted, Annette Juul , Dumontet, Charles , Tomczak, Waldemar , Marques, Herlander , Jurczyszyn, Artur , Vachon, Celine M. , Norman, Aaron D. , Slager, Susan L. , Canzian, Federico
International Journal of Cancer | March 6, 2021 | Volume: 149 | Issue: 2 | Pages: 327-336
AbstractGene expression profiling can be used for predicting survival in multiple myeloma (MM) and identifying patients who will benefit from particular types of therapy. Some germline single nucleotide polymorphisms (SNPs) act as expression quantitative trait loci (eQTLs) showing strong associations with gene expression levels. We performed an association study to test whether eQTLs of genes reported to be associated with prognosis of MM patients are directly associated with measures of adverse outcome. Using the genotype‐tissue expression portal, we identified a total of 16 candidate genes with at least one eQTL SNP associated with their expression with P < 10−7 either in EBV‐transformed B‐lymphocytes or whole blood. We genotyped the resulting 22 SNPs in 1327 MM cases from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and examined their association with overall survival (OS) and progression‐free survival (PFS), adjusting for age, sex, country of origin and disease stage. Three polymorphisms in two genes (TBRG4‐rs1992292, TBRG4‐rs2287535 and ENTPD1‐rs2153913) showed associations with OS at P < .05, with the former two also associated with PFS. The associations of two polymorphisms in TBRG4 with OS were replicated in 1277 MM cases from the International Lymphoma Epidemiology (InterLymph) Consortium. A meta‐analysis of the data from IMMEnSE and InterLymph (2579 cases) showed that TBRG4‐rs1992292 is associated with OS (hazard ratio = 1.14, 95% confidence interval 1.04‐1.26, P = .007). In conclusion, we found biologically a plausible association between a SNP in TBRG4 and OS of MM patients.