Display options
Cite
Moore A, Machiela MJ, Machado M, et al. Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes. J Transl Genet Genom. 2021;5:200-217doi: 10.20517/jtgg.2021.08.
Moore, A., Machiela, M. J., Machado, M., Wang, S. S., Kane, E., Slager, S. L., Zhou, W., Carrington, M., Lan, Q., Milne, R. L., Birmann, B. M., Adami, H. O., Albanes, D., Arslan, A. A., Becker, N., Benavente, Y., Bisanzi, S., Boffetta, P., Bracci, P. M., Brennan, P., Brooks-Wilson, A. R., Canzian, F., Caporaso, N., Clavel, J., Cocco, P., Conde, L., Cox, D. G., Cozen, W., Curtin, K., De Vivo, I., de Sanjose, S., Foretova, L., Gapstur, S. M., Ghesquières, H., Giles, G. G., Glenn, M., Glimelius, B., Gao, C., Habermann, T. M., Hjalgrim, H., Jackson, R. D., Liebow, M., Link, B. K., Maynadie, M., McKay, J., Melbye, M., Miligi, L., Molina, T. J., Monnereau, A., Nieters, A., North, K. E., Offit, K., Patel, A. V., Piro, S., Ravichandran, V., Riboli, E., Salles, G., Severson, R. K., Skibola, C. F., Smedby, K. E., Southey, M. C., Spinelli, J. J., Staines, A., Stewart, C., Teras, L. R., Tinker, L. F., Travis, R. C., Vajdic, C. M., Vermeulen, R. C. H., Vijai, J., Weiderpass, E., Weinstein, S., Doo, N. W., Zhang, Y., Zheng, T., Chanock, S. J., Rothman, N., Cerhan, J. R., Dean, M., Camp, N. J., Yeager, M., & Berndt, S. I. (2021). Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes. Journal of translational genetics and genomics, 5200-217. https://doi.org/10.20517/jtgg.2021.08
Moore, Amy, et al. "Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes." Journal of translational genetics and genomics vol. 5 (2021): 200-217. doi: https://doi.org/10.20517/jtgg.2021.08
Moore A, Machiela MJ, Machado M, Wang SS, Kane E, Slager SL, Zhou W, Carrington M, Lan Q, Milne RL, Birmann BM, Adami HO, Albanes D, Arslan AA, Becker N, Benavente Y, Bisanzi S, Boffetta P, Bracci PM, Brennan P, Brooks-Wilson AR, Canzian F, Caporaso N, Clavel J, Cocco P, Conde L, Cox DG, Cozen W, Curtin K, De Vivo I, de Sanjose S, Foretova L, Gapstur SM, Ghesquières H, Giles GG, Glenn M, Glimelius B, Gao C, Habermann TM, Hjalgrim H, Jackson RD, Liebow M, Link BK, Maynadie M, McKay J, Melbye M, Miligi L, Molina TJ, Monnereau A, Nieters A, North KE, Offit K, Patel AV, Piro S, Ravichandran V, Riboli E, Salles G, Severson RK, Skibola CF, Smedby KE, Southey MC, Spinelli JJ, Staines A, Stewart C, Teras LR, Tinker LF, Travis RC, Vajdic CM, Vermeulen RCH, Vijai J, Weiderpass E, Weinstein S, Doo NW, Zhang Y, Zheng T, Chanock SJ, Rothman N, Cerhan JR, Dean M, Camp NJ, Yeager M, Berndt SI. Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes. J Transl Genet Genom. 2021;5:200-217. doi: 10.20517/jtgg.2021.08. Epub 2021 Jun 17. PMID: 34622145; PMCID: PMC8494431.
Copy Download .nbib Format: NLM
Share it on

J Transl Genet Genom. 2021;5:200-217. doi: 10.20517/jtgg.2021.08. Epub 2021 Jun 17.

Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes.

Journal of translational genetics and genomics

Amy Moore, Mitchell J Machiela, Moara Machado, Sophia S Wang, Eleanor Kane, Susan L Slager, Weiyin Zhou, Mary Carrington, Qing Lan, Roger L Milne, Brenda M Birmann, Hans-Olov Adami, Demetrius Albanes, Alan A Arslan, Nikolaus Becker, Yolanda Benavente, Simonetta Bisanzi, Paolo Boffetta, Paige M Bracci, Paul Brennan, Angela R Brooks-Wilson, Federico Canzian, Neil Caporaso, Jacqueline Clavel, Pierluigi Cocco, Lucia Conde, David G Cox, Wendy Cozen, Karen Curtin, Immaculata De Vivo, Silvia de Sanjose, Lenka Foretova, Susan M Gapstur, Hervè Ghesquières, Graham G Giles, Martha Glenn, Bengt Glimelius, Chi Gao, Thomas M Habermann, Henrik Hjalgrim, Rebecca D Jackson, Mark Liebow, Brian K Link, Marc Maynadie, James McKay, Mads Melbye, Lucia Miligi, Thierry J Molina, Alain Monnereau, Alexandra Nieters, Kari E North, Kenneth Offit, Alpa V Patel, Sara Piro, Vignesh Ravichandran, Elio Riboli, Gilles Salles, Richard K Severson, Christine F Skibola, Karin E Smedby, Melissa C Southey, John J Spinelli, Anthony Staines, Carolyn Stewart, Lauren R Teras, Lesley F Tinker, Ruth C Travis, Claire M Vajdic, Roel C H Vermeulen, Joseph Vijai, Elisabete Weiderpass, Stephanie Weinstein, Nicole Wong Doo, Yawei Zhang, Tongzhang Zheng, Stephen J Chanock, Nathaniel Rothman, James R Cerhan, Michael Dean, Nicola J Camp, Meredith Yeager, Sonja I Berndt

Affiliations

  1. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
  2. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil.
  3. Division of Health Analytics, City of Hope Beckman Research Institute, Duarte, CA 91010, USA.
  4. Department of Health Sciences, University of York, York YO10 5DD, UK.
  5. Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
  6. Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD 20877, USA.
  7. Basic Science Program, Frederick National Laboratory for Cancer Research in the Laboratory of Integrative Cancer Immunology, National Cancer Institute, Bethesda, MD 20892, USA.
  8. Ragon Institute of MGH, Cambridge, MA 02139, USA.
  9. Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria 3004, Australia.
  10. Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
  11. Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria 3800, Australia.
  12. Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  13. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17176, Sweden.
  14. Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
  15. Institute of Health and Society, Clinical Effectiveness Research Group, University of Oslo, Oslo 0315, Norway.
  16. Department of Obstetrics and Gynecology, New York University School of Medicine, New York, NY 10016, USA.
  17. Department of Population Health, New York University School of Medicine, New York, NY 10016, USA.
  18. Perlmutter Comprehensive Cancer Center, NYU Langone Health, New York, NY 10016, USA.
  19. Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Baden-Württemberg 69120, Germany.
  20. Cancer Epidemiology Research Programme, Catalan Institute of Oncology-IDIBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.
  21. Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Barcelona 08036, Spain.
  22. Regional Cancer Prevention Laboratory, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence 50139, Italy.
  23. Stony Brook Cancer Center, Stony Brook University, Stony Brook, NY 11794, USA.
  24. Department of Medical and Surgical Sciences, University of Bologna, Bologna 41026, Italy.
  25. Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94118, USA.
  26. International Agency for Research on Cancer (IARC), Lyon 69372, France.
  27. Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia V5Z1L3, Canada.
  28. Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, British Columbia V5A1S6, Canada.
  29. Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.
  30. Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS), UMR1153, INSERM, Villejuif 75004, France.
  31. Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, Monserrato, Cagliari 09042, Italy.
  32. Bill Lyons Informatics Centre, UCL Cancer Institute, University College London, London WC1E 6DD, UK.
  33. INSERM U1052, Cancer Research Center of Lyon, Centre Léon Bérard, Lyon 69008, France.
  34. Department of Preventive Medicine, USC Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
  35. Norris Comprehensive Cancer Center, USC Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
  36. Department of Internal Medicine and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
  37. Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno 656 53, Czech Republic.
  38. Department of Population Science, American Cancer Society, Atlanta, GA 30303, USA.
  39. Department of Hematology, Centre Léon Bérard, Lyon 69008, France.
  40. INSERM U1052, Cancer Research Center of Lyon, Lyon-1 University, Pierre-Bénite Cedex 69008, France.
  41. Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala 75105, Sweden.
  42. Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  43. Department of Epidemiology Research, Division of Health Surveillance and Research, Statens Serum Institut, Copenhagen 2300, Denmark.
  44. Division of Endocrinology, Diabetes and Metabolism, The Ohio State University, Columbus, OH 43210, USA.
  45. Department of Internal Medicine, Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA.
  46. U1231, Registre des Hémopathies Malignes de Côte d'Or, University of Burgundy and Dijon University Hospital, Dijon 21070, France.
  47. Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
  48. Environmental and Occupational Epidemiology Branch-Cancer Risk Factors and Lifestyle Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence 50139, Italy.
  49. Department of Pathology, AP-HP, Necker Enfants Malades, Université Paris Descartes, EA 7324, Sorbonne Paris Cité 75015, France.
  50. Registre des Hémopathies Malignes de la Gironde, Institut Bergonié, Bordeaux Cedex 33076, France.
  51. Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Baden-Württemberg 79108, Germany.
  52. Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  53. Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  54. Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
  55. School of Public Health, Imperial College London, London W2 1PG, UK.
  56. Department of Hematology, Hospices Civils de Lyon, Pierre Benite Cedex 69495, France.
  57. Department of Hematology, Université Lyon-1, Pierre Benite Cedex 69495, France.
  58. Department of Family Medicine and Public Health Sciences, Wayne State University, Detroit, MI 48201, USA.
  59. Department of Hematology and Medical Oncology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  60. Department of Medicine, Solna, Karolinska Institutet, Stockholm 17176, Sweden.
  61. Hematology Center, Karolinska University Hospital, Stockholm 17176, Sweden.
  62. Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Melbourne, Victoria 3010, Australia.
  63. Cancer Control Research, BC Cancer Agency, Vancouver, British Columbia V5Z1L3, Canada.
  64. School of Population and Public Health, University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada.
  65. School of Nursing, Psychotherapy and Community Health, Dublin City University, Dublin 9, Ireland.
  66. Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98117, USA.
  67. Cancer Epidemiology Unit, University of Oxford, Oxford OX3 7LF, UK.
  68. Centre for Big Data Research in Health, University of New South Wales, Sydney, New South Wales 2052, Australia.
  69. Institute for Risk Assessment Sciences, Utrecht University, Utrecht 3584 CG, The Netherlands.
  70. Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  71. Concord Clinical School, University of Sydney, Concord, New South Wales 2139, Australia.
  72. Department of Environmental Health Sciences, Yale School of Public Health, New Haven, CT 06520, USA.
  73. Department of Epidemiology, Brown University, Providence, RI 02903, USA.

PMID: 34622145 PMCID: PMC8494431 DOI: 10.20517/jtgg.2021.08

Abstract

AIM: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk.

METHODS: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction of the autosome containing runs of homozygosity (FROH); (2) calculating an inbreeding coefficient derived from the correlation among uniting gametes (F3); and (3) examining specific autosomal regions containing ROH. For each, we calculated beta coefficients and standard errors using logistic regression and combined estimates across studies using random-effects meta-analysis.

RESULTS: We discovered positive associations between FROH and CLL (β = 21.1, SE = 4.41,

CONCLUSION: Our findings support the role of recessive genetic variation in the etiology of CLL and FL; additional research is needed to identify the specific loci associated with NHL risk.

Keywords: Non-Hodgkin lymphoma; chronic lymphocytic leukemia; diffuse large B-cell lymphoma; follicular lymphoma; homozygosity; marginal zone lymphoma

Conflict of interest statement

Conflicts of interest All authors declare that there are no conflicts of interest.

References

  1. Genet Epidemiol. 2007 May;31(4):358-62 - PubMed
  2. Cancer Res. 2018 Jul 15;78(14):4086-4096 - PubMed
  3. Gigascience. 2015 Feb 25;4:7 - PubMed
  4. Nat Genet. 2014 Nov;46(11):1233-8 - PubMed
  5. Am J Hum Genet. 2012 Aug 10;91(2):275-92 - PubMed
  6. Blood. 2007 Apr 15;109(8):3479-88 - PubMed
  7. Haematologica. 2009 May;94(5):647-53 - PubMed
  8. BMC Genomics. 2011 Sep 23;12:460 - PubMed
  9. Nat Commun. 2016 Mar 09;7:10933 - PubMed
  10. J Natl Cancer Inst Monogr. 2014 Aug;2014(48):26-40 - PubMed
  11. Blood. 2010 Jun 3;115(22):4472-7 - PubMed
  12. Cancer Epidemiol Biomarkers Prev. 2004 Sep;13(9):1415-21 - PubMed
  13. Genetics. 2011 Sep;189(1):237-49 - PubMed
  14. N Engl J Med. 2008 Aug 7;359(6):575-83 - PubMed
  15. J Natl Cancer Inst Monogr. 2014 Aug;2014(48):52-65 - PubMed
  16. Cancer Res. 2009 Sep 15;69(18):7422-9 - PubMed
  17. PLoS Genet. 2011 Apr;7(4):e1001378 - PubMed
  18. Nat Genet. 2010 Aug;42(8):661-4 - PubMed
  19. Nature. 2000 Feb 3;403(6769):503-11 - PubMed
  20. Blood. 2012 Dec 6;120(24):4783-94 - PubMed
  21. Hum Mol Genet. 2006 Mar 1;15(5):789-95 - PubMed
  22. Am J Hum Genet. 2008 Sep;83(3):359-72 - PubMed
  23. Nature. 2015 Jul 23;523(7561):459-462 - PubMed
  24. Hum Genet. 2014 Feb;133(2):211-24 - PubMed
  25. Hum Hered. 2014;77(1-4):49-62 - PubMed
  26. Br J Haematol. 2009 Jun;146(1):91-4 - PubMed
  27. Blood. 2005 Mar 1;105(5):1851-61 - PubMed
  28. J Natl Cancer Inst Monogr. 2014 Aug;2014(48):15-25 - PubMed
  29. Eur J Hum Genet. 2010 Aug;18(8):909-14 - PubMed
  30. Oncogene. 2013 Jun 6;32(23):2805-17 - PubMed
  31. Proc Natl Acad Sci U S A. 2017 Aug 8;114(32):8602-8607 - PubMed
  32. Am J Hum Genet. 2011 Jan 7;88(1):76-82 - PubMed
  33. Inflammation. 2016 Jun;39(3):1216-24 - PubMed
  34. Blood. 2005 Jul 15;106(2):668-72 - PubMed
  35. Nat Genet. 2013 Aug;45(8):868-76 - PubMed
  36. Am J Hum Genet. 2014 Oct 2;95(4):462-71 - PubMed
  37. Bioinformatics. 2010 Sep 1;26(17):2190-1 - PubMed
  38. Cell Death Dis. 2013 Dec 12;4:e963 - PubMed
  39. Am J Hum Genet. 2007 Sep;81(3):559-75 - PubMed
  40. J Natl Cancer Inst. 2005 Oct 5;97(19):1466-74 - PubMed
  41. Nat Commun. 2017 Feb 06;8:14175 - PubMed
  42. Clin Cancer Res. 2019 Oct 15;25(20):6180-6194 - PubMed
  43. Nat Commun. 2015 Jan 08;6:5751 - PubMed
  44. Sci Rep. 2015 Sep 22;5:14315 - PubMed
  45. PLoS One. 2016 Apr 28;11(4):e0154259 - PubMed
  46. Biomed Res Int. 2014;2014:435983 - PubMed
  47. Am J Hum Genet. 2013 Jul 11;93(1):90-102 - PubMed

Publication Types

Grant support