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2018-10-10

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cc by (c) McMaster et al., 2018
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/172131

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

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https://doi.org/10.1038/s41467-018-06541-2

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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.

Matèries

Malalties del sistema limfàtic, Leucèmia

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Lymphatic diseases, Leukemia

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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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.. Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia. _Nature Communications_. 2018. Vol. 9. [consulta: 21 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/172131]

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