Genetic associations with lymphomas in Polish patients: A pooled-DNA genome-wide association analysis.


Journal

International journal of immunogenetics
ISSN: 1744-313X
Titre abrégé: Int J Immunogenet
Pays: England
ID NLM: 101232337

Informations de publication

Date de publication:
Oct 2022
Historique:
revised: 26 07 2022
received: 16 05 2022
accepted: 10 08 2022
pubmed: 30 8 2022
medline: 8 9 2022
entrez: 29 8 2022
Statut: ppublish

Résumé

Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) have been identified. The aim of this study was to identify susceptibility loci for HL and DLBCL in Polish patients. Altogether, DLBCL (n = 218 and HL patients (n = 224) and healthy individuals (n = 1181) were recruited. Lymphoma diagnosis was based on standard criteria. Genome-wide association study (GWAS) was performed using pooled-DNA samples on llumina Infinium Omni2.5 Exome-8 v1.3, and selected loci were replicated by TaqMan SNP genotyping of individuals. GWAS detected thirteen and seven SNPs associated with DLBCL and HL, respectively. In the replication study, six and seven SNPs reached significance after correction for multiple testing in the DLBCL and HL cohorts, respectively. One and four SNPs associated with DLBCL and HL, respectively, were localized within, and two SNPs-near the major histocompatibility complex (MHC) region. In conclusion, the majority of loci associated with HL and DLBCL aetiology in previous studies have potential roles in immune function. Our pooled-DNA GWAS enabled the identification of several susceptibility loci for DLBCL and HL in the Polish population; some of them were mapped within or adjacent to the MHC, and other associated SNPs were located outside the MHC.

Identifiants

pubmed: 36036752
doi: 10.1111/iji.12596
doi:

Substances chimiques

DNA 9007-49-2

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

353-363

Subventions

Organisme : Maria Sklodowska-Curie National Research Institute of Oncology
ID : SN/GW01/2017

Informations de copyright

© 2022 John Wiley & Sons Ltd.

Références

Armstrong, D. L., Zidovetzki, R., Alarcón-Riquelme, M. E., Tsao, B. P., Criswell, L. A., Kimberly, R. P., Harley, J. B., Sivils, K. L., Vyse, T. J., Gaffney, P. M., Langefeld, C. D., & Jacob, C. O. (2014). GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. Genes and Immunity, 15(6), 347-354. https://doi.org/10.1038/gene.2014.23
Bassig, B. A., Cerhan, J. R., Au, W.-Y., Kim, H. N., Sangrajrang, S., Hu, W., Tse, J., Berndt, S., Zheng, T., Zhang, H., Pornsopone, P., Lee, J.-J., Kim, H.-J., Skibola, C. F., Vijai, J., Burdette, L., Yeager, M., Brennan, P., Shin, M.-H., … Rothman, N. (2015). Genetic susceptibility to diffuse large B-cell lymphoma in a pooled study of three Eastern Asian populations. European Journal of Haematology, 95(5), 442-448. https://doi.org/10.1111/ejh.12513
Bushey, R. T., & Lazarus, P. (2012). Identification and functional characterization of a novel UDP-glucuronosyltransferase 2A1 splice variant: Potential importance in tobacco-related cancer susceptibility. The Journal of Pharmacology and Experimental Therapeutics, 343(3), 712-724. https://doi.org/10.1124/jpet.112.198770
Cerhan, J. R., Berndt, S. I., Vijai, J., Ghesquières, H., McKay, J., Wang, S. S., Wang, Z., Yeager, M., Conde, L., de Bakker, P. I. W., Nieters, A., Cox, D., Burdett, L., Monnereau, A., Flowers, C. R., De Roos, A. J., Brooks-Wilson, A. R., Lan, Q., Severi, G., … Chanock, S. J. (2014). Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. Nature Genetics, 46(11), 1233-1238. https://doi.org/10.1038/ng.3105
Chang, D., Nalls, M. A., Hallgrímsdóttir, I. B., Hunkapiller, J., van der Brug, M., Cai, F., International Parkinson's Disease Genomics Consortium, 23andMe Research Team, Kerchner, G. A., Ayalon, G., Bingol, B., Sheng, M., Hinds, D., Behrens, T. W., Singleton, A. B., Bhangale, T. R., & Graham, R. R. (2017). A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Nature Genetics, 49(10), 1511-1516. https://doi.org/10.1038/ng.3955
Chen, Y., Xiang, H., Zhang, Y., Wang, J., & Yu, G. (2015). Loss of PCDH9 is associated with the differentiation of tumor cells and metastasis and predicts poor survival in gastric cancer. Clinical & Experimental Metastasis, 32(5), 417-428. https://doi.org/10.1007/s10585-015-9712-7
Cozen, W., Timofeeva, M. N., Li, D., Diepstra, A., Hazelett, D., Delahaye-Sourdeix, M., Edlund, C. K., Franke, L., Rostgaard, K., Van Den Berg, D. J., Cortessis, V. K., Smedby, K. E., Glaser, S. L., Westra, H.-J., Robison, L. L., Mack, T. M., Ghesquieres, H., Hwang, A. E., Nieters, A., … McKay, J. D. (2014). A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. Nature Communications, 5, 3856. https://doi.org/10.1038/ncomms4856
Davis, C. A., Hitz, B. C., Sloan, C. A., Chan, E. T., Davidson, J. M., Gabdank, I., Hilton, J. A., Jain, K., Baymuradov, U. K., Narayanan, A. K., Onate, K. C., Graham, K., Miyasato, S. R., Dreszer, T. R., Strattan, J. S., Jolanki, O., Tanaka, F. Y., & Cherry, J. M. (2018). The Encyclopedia of DNA elements (ENCODE): Data portal update. Nucleic Acids Research, 46(D1), D794-D801. https://doi.org/10.1093/nar/gkx1081
Didkowska, J., Wojciechowska, U., Michalek, I. M., & Caetano dos Santos, F. L. (2022). Cancer incidence and mortality in Poland in 2019. Scientific Reports, 12(1), 10875. https://doi.org/10.1038/s41598-022-14779-6
Durinck, S., Moreau, Y., Kasprzyk, A., Davis, S., De Moor, B., Brazma, A., & Huber, W. (2005). BioMart and Bioconductor: A powerful link between biological databases and microarray data analysis. Bioinformatics, 21(16), 3439-3440. https://doi.org/10.1093/bioinformatics/bti525
Durinck, S., Spellman, P. T., Birney, E., & Huber, W. (2009). Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt. Nature Protocols, 4(8), 1184-1191. https://doi.org/10.1038/nprot.2009.97
Enciso-Mora, V., Broderick, P., Ma, Y., Jarrett, R. F., Hjalgrim, H., Hemminki, K., van den Berg, A., Olver, B., Lloyd, A., Dobbins, S. E., Lightfoot, T., van Leeuwen, F. E., Försti, A., Diepstra, A., Broeks, A., Vijayakrishnan, J., Shield, L., Lake, A., Montgomery, D., … Houlston, R. S. (2010). A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). Nature Genetics, 42(12), 1126-1130. https://doi.org/10.1038/ng.696
Frampton, M., da Silva Filho, M. I., Broderick, P., Thomsen, H., Försti, A., Vijayakrishnan, J., Cooke, R., Enciso-Mora, V., Hoffmann, P., Nöthen, M. M., Lloyd, A., Holroyd, A., Eisele, L., Jöckel, K.-H., Ponader, S., von Strandmann, E. P., Lightfoot, T., Roman, E., Lake, A., … Houlston, R. S. (2013). Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. Nature Communications, 4, 2549. https://doi.org/10.1038/ncomms3549
Hennig, E. E., Kluska, A., Piątkowska, M., Kulecka, M., Bałabas, A., Zeber-Lubecka, N., Goryca, K., Ambrożkiewicz, F., Karczmarski, J., Olesiński, T., Zyskowski, Ł., & Ostrowski, J. (2021). GWAS links new variant in long non-coding RNA LINC02006 with colorectal cancer susceptibility. Biology, 10(6), 465. https://doi.org/10.3390/biology10060465
Hoepfner, S., Severin, F., Cabezas, A., Habermann, B., Runge, A., Gillooly, D., Stenmark, H., & Zerial, M. (2005). Modulation of receptor recycling and degradation by the endosomal kinesin KIF16B. Cell, 121(3), 437-450. https://doi.org/10.1016/j.cell.2005.02.017
Kentepozidou, E., Aitken, S. J., Feig, C., Stefflova, K., Ibarra-Soria, X., Odom, D. T., Roller, M., & Flicek, P. (2020). Clustered CTCF binding is an evolutionary mechanism to maintain topologically associating domains. Genome Biology, 21(1), 5. https://doi.org/10.1186/s13059-019-1894-x
Kleinstern, G., Yan, H., Hildebrandt, M. A. T., Vijai, J., Berndt, S. I., Ghesquières, H., McKay, J., Wang, S. S., Nieters, A., Ye, Y., Monnereau, A., Brooks-Wilson, A. R., Lan, Q., Melbye, M., Jackson, R. D., Teras, L. R., Purdue, M. P., Vajdic, C. M., Vermeulen, R. C. H., … Cerhan, J. R. (2020). Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways. Human Molecular Genetics, 29(1), 70-79. https://doi.org/10.1093/hmg/ddz228
Küppers, R. (2009). The biology of Hodgkin's lymphoma. Nature Reviews Cancer, 9(1), 15-27. https://doi.org/10.1038/nrc2542
Lazniewski, M., Dawson, W. K., Rusek, A. M., & Plewczynski, D. (2019). One protein to rule them all: The role of CCCTC-binding factor in shaping human genome in health and disease. Seminars in Cell & Developmental Biology, 90, 114-127. https://doi.org/10.1016/j.semcdb.2018.08.003
Low, T., Kostakis, A., & Balasubramanian, M. (2018). Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. Ophthalmic Genetics, 39(2), 286-287. https://doi.org/10.1080/13816810.2017.1393827
Lv, J., Zhu, P., Zhang, X., Zhang, L., Chen, X., Lu, F., Yu, Z., & Liu, S. (2017). PCDH9 acts as a tumor suppressor inducing tumor cell arrest at G0/G1 phase and is frequently methylated in hepatocellular carcinoma. Molecular Medicine Reports, 16(4), 4475-4482. https://doi.org/10.3892/mmr.2017.7193
Nunes, M. S., E. S. with contributions from T., Heuer, C., Marshall, J., Sanchez, J., Thornton, R., Reiczigel, J., Robison-Cox, J., Sebastiani, P., Solymos, P., Yoshida, K., Jones, G., Pirikahu, S., Firestone, S., Kyle, R., Popp, J., Jay, M., Reynard, C., Cheung, A., Singanallur, N., & Rabiee, A. S. A. (2022). epiR: Tools for the analysis of epidemiological data (2.0.50) [Computer software]. https://CRAN.R-project.org/package=epiR
Ostrowski, J., Paziewska, A., Lazowska, I., Ambrozkiewicz, F., Goryca, K., Kulecka, M., Rawa, T., Karczmarski, J., Dabrowska, M., Zeber-Lubecka, N., Tomecki, R., Kluska, A., Balabas, A., Piatkowska, M., Paczkowska, K., Kierkus, J., Socha, P., Lodyga, M., Rydzewska, G., … Mikula, M. (2016). Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population. Scientific Reports, 6, 39831. https://doi.org/10.1038/srep39831
Paziewska, A., Cukrowska, B., Dabrowska, M., Goryca, K., Piatkowska, M., Kluska, A., Mikula, M., Karczmarski, J., Oralewska, B., Rybak, A., Socha, J., Balabas, A., Zeber-Lubecka, N., Ambrozkiewicz, F., Konopka, E., Trojanowska, I., Zagroba, M., Szperl, M., & Ostrowski, J. (2015). Combination testing using a single MSH5 variant alongside HLA haplotypes improves the sensitivity of predicting coeliac disease risk in the Polish population. PLoS One, 10(9), e0139197. https://doi.org/10.1371/journal.pone.0139197
Paziewska, A., Habior, A., Rogowska, A., Zych, W., Goryca, K., Karczmarski, J., Dabrowska, M., Ambrozkiewicz, F., Walewska-Zielecka, B., Krawczyk, M., Cichoz-Lach, H., Milkiewicz, P., Kowalik, A., Mucha, K., Raczynska, J., Musialik, J., Boryczka, G., Wasilewicz, M., Ciecko-Michalska, I., … Ostrowski, J. (2017). A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients. BMC Medical Genomics, 10(1), 2. https://doi.org/10.1186/s12920-016-0239-9
Perreault, M., Gauthier-Landry, L., Trottier, J., Verreault, M., Caron, P., Finel, M., & Barbier, O. (2013). The human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are highly active in bile acid glucuronidation. Drug Metabolism and Disposition: The Biological Fate of Chemicals, 41(9), 1616-1620. https://doi.org/10.1124/dmd.113.052613
Senum, S. R., Li, Y. S. M., Benson, K. A., Joli, G., Olinger, E., Lavu, S., Madsen, C. D., Gregory, A. V., Neatu, R., Kline, T. L., Audrézet, M.-P., Outeda, P., Nau, C. B., Meijer, E., Ali, H., Steinman, T. I., Mrug, M., Phelan, P. J., Watnick, T. J., … Harris, P. C. (2022). Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. American Journal of Human Genetics, 109(1), 136-156. https://doi.org/10.1016/j.ajhg.2021.11.016
Sham, P. C., & Purcell, S. M. (2014). Statistical power and significance testing in large-scale genetic studies. Nature Reviews Genetics, 15(5), 335-346. https://doi.org/10.1038/nrg3706
Sud, A., Thomsen, H., Law, P. J., Försti, A., Filho, M. I., da, S., Holroyd, A., Broderick, P., Orlando, G., Lenive, O., Wright, L., Cooke, R., Easton, D., Pharoah, P., Dunning, A., Peto, J., Canzian, F., Eeles, R., Kote-Jarai, Zs., … Houlston, R. S. (2017). Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. Nature Communications, 8(1), 1892. https://doi.org/10.1038/s41467-017-00320-1
Team, R. C. (2014). R: A language and environment for statistical computing. R Foundation for Statistical Computing. ISBN 3-900051-07-0.
Thomsen, H., da Silva Filho, M. I., Försti, A., Fuchs, M., Ponader, S., von Strandmann, E. P., Eisele, L., Herms, S., Hofmann, P., Sundquist, J., Engert, A., & Hemminki, K. (2015). Heritability estimates on Hodgkin's lymphoma: A genomic- versus population-based approach. European Journal of Human Genetics: EJHG, 23(6), 824-830. https://doi.org/10.1038/ejhg.2014.184
Turner, S. D. (2014). qqman: An R package for visualizing GWAS results using Q-Q and manhattan plots. BioRxiv, https://doi.org/10.1101/005165
Urayama, K. Y., Jarrett, R. F., Hjalgrim, H., Diepstra, A., Kamatani, Y., Chabrier, A., Gaborieau, V., Boland, A., Nieters, A., Becker, N., Foretova, L., Benavente, Y., Maynadié, M., Staines, A., Shield, L., Lake, A., Montgomery, D., Taylor, M., Smedby, K. E., … McKay, J. D. (2012). Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. Journal of the National Cancer Institute, 104(3), 240-253. https://doi.org/10.1093/jnci/djr516
Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017). 10 years of GWAS discovery: Biology, function, and translation. American Journal of Human Genetics, 101(1), 5-22. https://doi.org/10.1016/j.ajhg.2017.06.005
Wahlberg, K., Jiang, J., Rooks, H., Jawaid, K., Matsuda, F., Yamaguchi, M., Lathrop, M., Thein, S. L., & Best, S. (2009). The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood, 114(6), 1254-1262. https://doi.org/10.1182/blood-2009-03-210146
Wang, C., Yu, G., Liu, J., Wang, J., Zhang, Y., Zhang, X., Zhou, Z., & Huang, Z. (2012). Downregulation of PCDH9 predicts prognosis for patients with glioma. Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia, 19(4), 541-545. https://doi.org/10.1016/j.jocn.2011.04.047
Wang, X., Sha, Y.-W., Wang, W.-T., Cui, Y.-Q., Chen, J., Yan, W., Hou, X.-T., Mei, L.-B., Yu, C.-C., & Wang, J. (2019). Novel IFT140 variants cause spermatogenic dysfunction in humans. Molecular Genetics & Genomic Medicine, 7(9), e920. https://doi.org/10.1002/mgg3.920
Xiao, X., Zheng, F., Chang, H., Ma, Y., Yao, Y.-G., Luo, X.-J., & Li, M. (2018). The gene encoding protocadherin 9 (PCDH9), a novel risk factor for major depressive disorder. Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology, 43(5), 1128-1137. https://doi.org/10.1038/npp.2017.241
Zhong, C., Gragert, L., Maiers, M., Hill, B. T., Garcia-Gomez, J., Gendzekhadze, K., Senitzer, D., Song, J., Weisenburger, D., Goldstein, L., & Wang, S. S. (2019). The association between HLA and non-Hodgkin lymphoma subtypes, among a transplant-indicated population. Leukemia & Lymphoma, 60(12), 2899-2908. https://doi.org/10.1080/10428194.2019.1617858
Zuber, V., Marconett, C. N., Shi, J., Hua, X., Wheeler, W., Yang, C., Song, L., Dale, A. M., Laplana, M., Risch, A., Witoelar, A., Thompson, W. K., Schork, A. J., Bettella, F., Wang, Y., Djurovic, S., Zhou, B., Borok, Z., van der Heijden, H. F. M., … Landi, M. T. (2016). Pleiotropic analysis of lung cancer and blood triglycerides. Journal of the National Cancer Institute, 108(12), djw167. https://doi.org/10.1093/jnci/djw167

Auteurs

Ewa Paszkiewicz-Kozik (E)

Department of Lymphoproliferative Diseases, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Anna Kluska (A)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Magdalena Piątkowska (M)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Aneta Bałabas (A)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Natalia Żeber-Lubecka (N)

Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of Postgraduate Medical Education, Warsaw, Poland.

Jakub Karczmarski (J)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Krzysztof Goryca (K)

Genomics Core Facility, Centre of New Technologies, University of Warsaw, Warsaw, Poland.

Maria Kulecka (M)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of Postgraduate Medical Education, Warsaw, Poland.

Elżbieta Wojciechowska-Lampka (E)

Department of Lymphoproliferative Diseases, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Włodzimierz Osiadacz (W)

Department of Lymphoproliferative Diseases, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Joanna Romejko-Jarosińska (J)

Department of Lymphoproliferative Diseases, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Monika Świerkowska (M)

Department of Lymphoproliferative Diseases, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Agnieszka Paziewska (A)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of Postgraduate Medical Education, Warsaw, Poland.

Filip Ambrożkiewicz (F)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Jan Walewski (J)

Department of Lymphoproliferative Diseases, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Michał Mikula (M)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Jerzy Ostrowski (J)

Department of Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of Postgraduate Medical Education, Warsaw, Poland.

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