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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, 4 Brian Link 5 Roel Vermeulen Stephen Ansell 6 Ann Maria W. Ryan Diver Mads Melbye Akinyemi Ojesina Peter Kraft Paolo Boffetta 7, 8 Jacqueline Clavel 9 Edward Giovannucci Caroline Besson 10 Federico Canzian Ruth Travis Paolo Vineis Elisabete Weiderpass Rebecca Montalvan Zhaoming Wang Meredith Yeager Nikolaus Becker 11 Yolanda Benavente 12 Paul Brennan 13 Lenka Foretova 14 Marc Maynadié 15, 16, 17 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 18 Lesley Tinker 19 Wendy Cozen 20 Richard Severson 21 Jonathan Hofmann 1 Yawei Zhang 22 Rebecca Jackson 23 Lindsay Morton 1 Mark Purdue 1 Nilanjan Chatterjee 1, 24 Kenneth Offit 25 James Cerhan 6 Stephen Chanock 1 Nathaniel Rothman 1 Joseph Vijai 25 Lynn Goldin 1 Christine Skibola 26 Neil Caporaso 1
* Auteur correspondant
1 NCI-NIH - National Cancer Institute [Bethesda]
2 IACR - International Agency for Cancer Research
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
4 BPH - Bordeaux population health
5 Department of Internal Medicine [Iowa City]
6 Mayo Clinic [Rochester]
7 MSSM - Icahn School of Medicine at Mount Sinai [New York]
8 The Tisch Cancer Institute
9 CRESS (U1153 / UMR_A_1125 / UMR_S_1153) - Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité
10 CESP - Centre de recherche en épidémiologie et santé des populations
11 Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
12 Catalan Institute of Oncology (ICO-IDIBELL)
13 CIRC - IARC - Centre International de Recherche contre le Cancer - International Agency for Research on Cancer
14 Masaryk Memorial Cancer Institute
15 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
16 UB - Université de Bourgogne
17 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
18 Carolina Center for Genome Sciences
19 FHCRC - Fred Hutchinson Cancer Research Center [Seattle]
20 Keck School of Medicine [Los Angeles]
21 Wayne State University [Detroit]
22 YSPH - Yale School of Public Health
23 OSU - Ohio State University [Columbus]
24 Johns Hopkins Bloomberg School of Public Health [Baltimore]
25 Memorial Sloane Kettering Cancer Center [New York]
26 Emory University [Atlanta, GA]
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.
Keywords : MicroRNAs enhanced green fluorescent protein Green Fluorescent Proteins Chromosomes Human Chromosomes Human Pair 14 Chromosomes Human Pair 6 Genetic Predisposition to Disease Waldenstrom Macroglobulinemia
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02061532
Contributeur : Lnc - Université de Bourgogne Connectez-vous pour contacter le contributeur
Soumis le : vendredi 8 mars 2019 - 11:06:18
Dernière modification le : jeudi 20 janvier 2022 - 08:34:34

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Citation

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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