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http://hdl.handle.net/2445/172131
Title: | Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia |
Author: | McMaster, Mary L. Berndt, Sonja I. Zhang, Jianping Slager, Susan L. Li, Shengchao Alfred Vajdic, Claire M. Smedby, Karin E. Yan, Huihuang Birmann, Brenda M. Brown, Elizabeth E. Smith, Alex Kleinstern, Geffen Fansler, Mervin M. Mayr, Christine Zhu, Bin Chung, Charles C. Park, Ju-Hyun Burdette, Laurie Hicks, Belynda D. Hutchinson, Amy Teras, Lauren R. Adami, Hans-Olov Bracci, Paige M. McKay, James D. Monnereau, Alain Link, Brian K. Vermeulen, Roel C. H. Ansell, Stephen M. Maria, Ann Diver, W. Ryan Melbye, Mads Ojesina, Akinyemi I. Kraft, Peter Boffetta, Paolo Clavel, Jacqueline Giovannucci, Edward Besson, Caroline Canzian, Federico Travis, Ruth C. Vineis, Paolo Weiderpass, Elisabete Montalvan, Rebecca Wang, Zhaoming Yeager, Meredith Becker, Nikolaus Benavente, Yolanda Brennan, Paul Foretova, Lenka Maynadié, Marc Nieters, Alexandra Sanjosé Llongueras, Silvia de Staines, Anthony Conde, Lucía Riby, Jacques Glimelius, Bengt Hjalgrim, Henrik Pradhan, Nisha Feldman, Andrew L. Novak, Anne J. Lawrence, Charles Bassig, Bryan A. Lan, Qing Zheng, Tongzhang North, Kari E. Tinker, Lesley F. Cozen, Wendy Severson, Richard K. Hofmann, Jonathan N. Zhang, Yawei Jackson, Rebecca D. Morton, Lindsay M. Purdue, Mark P. Chatterjee, Nilanjan Offit, Kenneth Cerhan, James R. Chanock, Stephen J. Rothman, Nathaniel Vijai, Joseph Goldin, Lynn R. Skibola, Christine F. Caporaso, Neil E. |
Keywords: | Malalties del sistema limfàtic Leucèmia Lymphatic diseases Leukemia |
Issue Date: | 10-Oct-2018 |
Publisher: | Nature Publishing Group |
Abstract: | Waldenstrom macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL) is a rare, chronic B-cell lymphoma with high heritability. We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI: 14.40-31.03, P=1.36 x 10(-)(54)) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45-6.96, P = 8.75 x 10(-)(19)) . Both risk alleles are observed at a low frequency among controls (similar to 2-3%) and occur in excess in affected cases within families. In silico data suggest that rs116446171 may have functional importance, and in functional studies, we demonstrate increased reporter transcription and proliferation in cells transduced with the 6p25.3 risk allele. Although further studies are needed to fully elucidate underlying biological mechanisms, together these loci explain 4% of the familial risk and provide insights into genetic susceptibility to this malignancy. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-018-06541-2 |
It is part of: | Nature Communications, 2018, vol. 9 |
URI: | http://hdl.handle.net/2445/172131 |
Related resource: | https://doi.org/10.1038/s41467-018-06541-2 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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