J 2018

Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia

MCMASTER, M. L., S. I. BERNDT, J. ZHANG, S. L. SLAGER, S. A. LI et. al.

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30204 Oncology

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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
Změněno: 20/5/2022 10:36, Mgr. Tereza Miškechová

Abstract

V originále

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.
Displayed: 18/11/2024 22:41