دورية أكاديمية
Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia
| العنوان: | Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia |
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| المؤلفون: | McMaster, Mary L., Berndt, Sonja I., Zhang, Jianqing, 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, 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 M., Canzian, Federico, Travis, Ruth C., Vineis, Paolo, Weiderpass, Elisabete, Montalvan, Rebecca, Wang, Zhaoming, Yeager, Meredith, Becker, Nikolaus, Benavente, Yolanda, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Nieters, Alexandra, de Sanjose, Silvia, Staines, Anthony, Conde, Lucia, 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. |
| المصدر: | 2041-1723. |
| سنة النشر: | 2018 |
| المجموعة: | Universitet i Oslo: Digitale utgivelser ved UiO (DUO) |
| الوصف: | Waldenström 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 × 10−54) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45–6.96, P = 8.75 × 10−19). Both risk alleles are observed at a low frequency among controls (~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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | http://urn.nb.no/URN:NBN:no-70732Test; McMaster, Mary L. Berndt, Sonja I. Zhang, Jianqing 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 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 M. Canzian, Federico Travis, Ruth C. Vineis, Paolo Weiderpass, Elisabete Montalvan, Rebecca Wang, Zhaoming Yeager, Meredith Becker, Nikolaus Benavente, Yolanda Brennan, Paul Foretova, Lenka Maynadie, Marc Nieters, Alexandra de Sanjose, Silvia Staines, Anthony Conde, Lucia 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, 9:4182, 1-12; http://hdl.handle.net/10852/67559Test; 1638001; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=9:4182&rft.spage=1&rft.date=2018; Nature Communications; 9:4182; 12; http://dx.doi.org/10.1038/s41467-018-06541-2Test; URN:NBN:no-70732; Fulltext https://www.duo.uio.no/bitstream/handle/10852/67559/1/article.pdfTest |
| DOI: | 10.1038/s41467-018-06541-2 |
| الإتاحة: | https://doi.org/10.1038/s41467-018-06541-2Test http://hdl.handle.net/10852/67559Test http://urn.nb.no/URN:NBN:no-70732Test |
| حقوق: | Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.CD439135 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-018-06541-2 |
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