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

dc.rights.licenseopenen_US
dc.contributor.authorMCMASTER, M. L.
dc.contributor.authorBERNDT, S. I.
dc.contributor.authorZHANG, J.
dc.contributor.authorSLAGER, S. L.
dc.contributor.authorLI, S. A.
dc.contributor.authorVAJDIC, C. M.
dc.contributor.authorSMEDBY, K. E.
dc.contributor.authorYAN, H.
dc.contributor.authorBIRMANN, B. M.
dc.contributor.authorBROWN, E. E.
dc.contributor.authorSMITH, A.
dc.contributor.authorKLEINSTERN, G.
dc.contributor.authorFANSLER, M. M.
dc.contributor.authorMAYR, C.
dc.contributor.authorZHU, B.
dc.contributor.authorCHUNG, C. C.
dc.contributor.authorPARK, J. H.
dc.contributor.authorBURDETTE, L.
dc.contributor.authorHICKS, B. D.
dc.contributor.authorHUTCHINSON, A.
dc.contributor.authorTERAS, L. R.
dc.contributor.authorADAMI, H. O.
dc.contributor.authorBRACCI, P. M.
dc.contributor.authorMCKAY, J.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorMONNEREAU, Alain
dc.contributor.authorLINK, B. K.
dc.contributor.authorVERMEULEN, R. C. H.
dc.contributor.authorANSELL, S. M.
dc.contributor.authorMARIA, A.
dc.contributor.authorDIVER, W. R.
dc.contributor.authorMELBYE, M.
dc.contributor.authorOJESINA, A. I.
dc.contributor.authorKRAFT, P.
dc.contributor.authorBOFFETTA, P.
dc.contributor.authorCLAVEL, J.
dc.contributor.authorGIOVANNUCCI, E.
dc.contributor.authorBESSON, C. M.
dc.contributor.authorCANZIAN, F.
dc.contributor.authorTRAVIS, R. C.
dc.contributor.authorVINEIS, P.
dc.contributor.authorWEIDERPASS, E.
dc.contributor.authorMONTALVAN, R.
dc.contributor.authorWANG, Z.
dc.contributor.authorYEAGER, M.
dc.contributor.authorBECKER, N.
dc.contributor.authorBENAVENTE, Y.
dc.contributor.authorBRENNAN, P.
dc.contributor.authorFORETOVA, L.
dc.contributor.authorMAYNADIE, M.
dc.contributor.authorNIETERS, A.
dc.contributor.authorDE SANJOSE, S.
dc.contributor.authorSTAINES, A.
dc.contributor.authorCONDE, L.
dc.contributor.authorRIBY, J.
dc.contributor.authorGLIMELIUS, B.
dc.contributor.authorHJALGRIM, H.
dc.contributor.authorPRADHAN, N.
dc.contributor.authorFELDMAN, A. L.
dc.contributor.authorNOVAK, A. J.
dc.contributor.authorLAWRENCE, C.
dc.contributor.authorBASSIG, B. A.
dc.contributor.authorLAN, Q.
dc.contributor.authorZHENG, T.
dc.contributor.authorNORTH, K. E.
dc.contributor.authorTINKER, L. F.
dc.contributor.authorCOZEN, W.
dc.contributor.authorSEVERSON, R. K.
dc.contributor.authorHOFMANN, J. N.
dc.contributor.authorZHANG, Y.
dc.contributor.authorJACKSON, R. D.
dc.contributor.authorMORTON, L. M.
dc.contributor.authorPURDUE, M. P.
dc.contributor.authorCHATTERJEE, N.
dc.contributor.authorOFFIT, K.
dc.contributor.authorCERHAN, J. R.
dc.contributor.authorCHANOCK, S. J.
dc.contributor.authorROTHMAN, N.
dc.contributor.authorVIJAI, J.
dc.contributor.authorGOLDIN, L. R.
dc.contributor.authorSKIBOLA, C. F.
dc.contributor.authorCAPORASO, N. E.
dc.date.accessioned2020-12-07T13:52:59Z
dc.date.available2020-12-07T13:52:59Z
dc.date.issued2018-10-10
dc.identifier.issn2041-1723 (Electronic) 2041-1723 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/21329
dc.description.abstractEnWaldenstrom 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 (~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.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enEPICENE
dc.title.enTwo high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstrom macroglobulinemia
dc.title.alternativeNat Communen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41467-018-06541-2en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30305637en_US
bordeaux.journalNature Communicationsen_US
bordeaux.page4182en_US
bordeaux.volume9en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamEPICENE_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
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