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

Mary Mcmaster 1, * Sonja Berndt 1 Jianqing Zhang Susan Slager Shengchao Alfred Li Claire Vajdic Karin Smedby Huihuang Yan Brenda Birmann Elizabeth Brown Alex Smith Geffen Kleinstern Mervin Fansler Christine Mayr Bin Zhu Charles Chung Ju-Hyun Park Laurie Burdette Belynda Hicks Amy Hutchinson Lauren Teras Hans-Olov Adami Paige Bracci James Mckay 2 Alain Monnereau 3 Brian Link 4 Roel Vermeulen Stephen Ansell 5 Ann Maria W. Ryan Diver Mads Melbye Akinyemi Ojesina Peter Kraft Paolo Boffetta 6, 7 Jacqueline Clavel 8 Edward Giovannucci Caroline Besson 9 Federico Canzian Ruth Travis Paolo Vineis Elisabete Weiderpass Rebecca Montalvan Zhaoming Wang Meredith Yeager Nikolaus Becker 10 Yolanda Benavente 11 Paul Brennan 12 Lenka Foretova 13 Marc Maynadié 14, 15, 16 Alexandra Nieters Silvia de Sanjosé Anthony Staines Lucia Conde Jacques Riby Bengt Glimelius Henrik Hjalgrim Nisha Pradhan Andrew Feldman Anne Novak Charles Lawrence Bryan Bassig Qing Lan Tongzhang Zheng Kari North 17 Lesley Tinker 18 Wendy Cozen 19 Richard Severson 20 Jonathan Hofmann 1 Yawei Zhang 21 Rebecca Jackson 22 Lindsay Morton 1 Mark Purdue 1 Nilanjan Chatterjee 1, 23 Kenneth Offit 24 James Cerhan 5 Stephen Chanock 1 Nathaniel Rothman 1 Joseph Vijai 24 Lynn Goldin 1 Christine Skibola 25 Neil Caporaso 1
* Auteur correspondant
3 CRESS - U1153 - Equipe 7 : EPICEA - Epidémiologie des cancers de l'enfant et de l'adolescent
UPD5 - Université Paris Descartes - Paris 5, CRESS (U1153 / UMR_A_1125 / UMR_S_1153) - Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité
14 RHEMCO - Registre des hématopathies malignes de Côte d'Or
CEP - Centre d'épidémiologie des populations, CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
Abstract : 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.
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02061532
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : vendredi 8 mars 2019 - 11:06:18
Dernière modification le : mercredi 14 octobre 2020 - 03:40:11

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Mary Mcmaster, Sonja Berndt, Jianqing Zhang, Susan Slager, Shengchao Alfred Li, et al.. Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia. Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4182. ⟨10.1038/s41467-018-06541-2⟩. ⟨hal-02061532⟩

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