MCMASTER, M. L., S. I. BERNDT, J. ZHANG, S. L. SLAGER, S. A. LI, C. M. VAJDIC, K. E. SMEDBY, H. YAN, B. M. BIRMANN, E. E. BROWN, A. SMITH, G. KLEINSTERN, M. M. FANSLER, C. MAYR, B. ZHU, C. C. CHUNG, J. H. PARK, L. BURDETTE, B. D. HICKS, A. HUTCHINSON, L. R. TERAS, H. O. ADAMI, P. M. BRACCI, J. MCKAY, A. MONNEREAU, B. K. LINK, R. C. H. VERMEULEN, S. M. ANSELL, A. MARIA, W. R. DIVER, M. MELBYE, A. I. OJESINA, P. KRAFT, P. BOFFETTA, J. CLAVEL, E. GIOVANNUCCI, C. M. BESSON, F. CANZIAN, R. C. TRAVIS, P. VINEIS, E. WEIDERPASS, R. MONTALVAN, Z. WANG, M. YEAGER, N. BECKER, Y. BENAVENTE, P. BRENNAN, Lenka FORETOVÁ, M. MAYNADIE, A. NIETERS, S. DE SANJOSE, A. STAINES, L. CONDE, J. RIBY, B. GLIMELIUS, H. HJALGRIM, N. PRADHAN, A. L. FELDMAN, A. J. NOVAK, C. LAWRENCE, B. A. BASSIG, Q. LAN, T. ZHENG, K. E. NORTH, L. F. TINKER, W. COZEN, R. K. SEVERSON, J. N. HOFMANN, Y. ZHANG, R. D. JACKSON, L. M. MORTON, M. P. PURDUE, N. CHATTERJEE, K. OFFIT, J. R. CERHAN, S. J. CHANOCK, N. ROTHMAN, J. VIJAI, L. R. GOLDIN, C. F. SKIBOLA and N. E. CAPORASO. Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia. Nature Communications. Berlin: Nature, 2018, vol. 9, OCT 2018, p. 1-12. ISSN 2041-1723. Available from: https://dx.doi.org/10.1038/s41467-018-06541-2.
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Basic information
Original name Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia
Authors MCMASTER, M. L. (guarantor), S. I. BERNDT, J. ZHANG, S. L. SLAGER, S. A. LI, C. M. VAJDIC, K. E. SMEDBY, H. YAN, B. M. BIRMANN, E. E. BROWN, A. SMITH, G. KLEINSTERN, M. M. FANSLER, C. MAYR, B. ZHU, C. C. CHUNG, J. H. PARK, L. BURDETTE, B. D. HICKS, A. HUTCHINSON, L. R. TERAS, H. O. ADAMI, P. M. BRACCI, J. MCKAY, A. MONNEREAU, B. K. LINK, R. C. H. VERMEULEN, S. M. ANSELL, A. MARIA, W. R. DIVER, M. MELBYE, A. I. OJESINA, P. KRAFT, P. BOFFETTA, J. CLAVEL, E. GIOVANNUCCI, C. M. BESSON, F. CANZIAN, R. C. TRAVIS, P. VINEIS, E. WEIDERPASS, R. MONTALVAN, Z. WANG, M. YEAGER, N. BECKER, Y. BENAVENTE, P. BRENNAN, Lenka FORETOVÁ (203 Czech Republic, belonging to the institution), M. MAYNADIE, A. NIETERS, S. DE SANJOSE, A. STAINES, L. CONDE, J. RIBY, B. GLIMELIUS, H. HJALGRIM, N. PRADHAN, A. L. FELDMAN, A. J. NOVAK, C. LAWRENCE, B. A. BASSIG, Q. LAN, T. ZHENG, K. E. NORTH, L. F. TINKER, W. COZEN, R. K. SEVERSON, J. N. HOFMANN, Y. ZHANG, R. D. JACKSON, L. M. MORTON, M. P. PURDUE, N. CHATTERJEE, K. OFFIT, J. R. CERHAN, S. J. CHANOCK, N. ROTHMAN, J. VIJAI, L. R. GOLDIN, C. F. SKIBOLA and N. E. CAPORASO.
Edition Nature Communications, Berlin, Nature, 2018, 2041-1723.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30204 Oncology
Country of publisher Germany
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 11.878
RIV identification code RIV/00216224:14110/18:00124644
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1038/s41467-018-06541-2
UT WoS 000446846600001
Keywords in English B-cell lymphoma; Cancer epidemiology; Genome-wide association studies; miRNAs
Tags 14110811, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 20/5/2022 10:36.
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.
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