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000178451 1001_ $$aAjore, Ram$$b0
000178451 245__ $$aFunctional dissection of inherited non-coding variation influencing multiple myeloma risk.
000178451 260__ $$a[London]$$bNature Publishing Group UK$$c2022
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000178451 520__ $$aThousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1). Notably, three of these variants co-localize with significant plasma cell caQTLs, signaling the presence of causal activity at these precise genomic positions in an endogenous chromosomal context in vivo. Our results provide a systematic functional dissection of risk loci for a hematologic malignancy.
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000178451 7001_ $$00000-0002-5904-0635$$aNiroula, Abhishek$$b1
000178451 7001_ $$00000-0002-4869-8925$$aPertesi, Maroulio$$b2
000178451 7001_ $$aCafaro, Caterina$$b3
000178451 7001_ $$00000-0001-6244-3841$$aThodberg, Malte$$b4
000178451 7001_ $$aWent, Molly$$b5
000178451 7001_ $$00000-0002-6074-6766$$aBao, Erik L$$b6
000178451 7001_ $$aDuran-Lozano, Laura$$b7
000178451 7001_ $$aLopez de Lapuente Portilla, Aitzkoa$$b8
000178451 7001_ $$00000-0001-5454-938X$$aOlafsdottir, Thorunn$$b9
000178451 7001_ $$aUgidos-Damboriena, Nerea$$b10
000178451 7001_ $$aMagnusson, Olafur$$b11
000178451 7001_ $$00000-0002-9978-5682$$aSamur, Mehmet$$b12
000178451 7001_ $$00000-0003-4179-4807$$aLareau, Caleb A$$b13
000178451 7001_ $$00000-0001-7067-9862$$aHalldorsson, Gisli H$$b14
000178451 7001_ $$aThorleifsson, Gudmar$$b15
000178451 7001_ $$aNorddahl, Gudmundur L$$b16
000178451 7001_ $$aGunnarsdottir, Kristbjorg$$b17
000178451 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b18$$udkfz
000178451 7001_ $$aGoldschmidt, Hartmut$$b19
000178451 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b20$$udkfz
000178451 7001_ $$avan Rhee, Frits$$b21
000178451 7001_ $$aKimber, Scott$$b22
000178451 7001_ $$00000-0002-9369-4413$$aSperling, Adam S$$b23
000178451 7001_ $$00000-0002-3677-4804$$aKaiser, Martin$$b24
000178451 7001_ $$00000-0002-6418-0886$$aAnderson, Kenneth$$b25
000178451 7001_ $$00000-0001-8339-150X$$aJonsdottir, Ingileif$$b26
000178451 7001_ $$00000-0002-7344-9795$$aMunshi, Nikhil$$b27
000178451 7001_ $$00000-0003-0491-7046$$aRafnar, Thorunn$$b28
000178451 7001_ $$aWaage, Anders$$b29
000178451 7001_ $$0P:(DE-He78)66b39a79f3f922997656d7b902d324fb$$aWeinhold, Niels$$b30$$udkfz
000178451 7001_ $$aThorsteinsdottir, Unnur$$b31
000178451 7001_ $$00000-0003-0044-443X$$aSankaran, Vijay G$$b32
000178451 7001_ $$00000-0003-1676-864X$$aStefansson, Kari$$b33
000178451 7001_ $$00000-0002-5268-0242$$aHoulston, Richard$$b34
000178451 7001_ $$00000-0001-5542-0254$$aNilsson, Björn$$b35
000178451 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-021-27666-x$$gVol. 13, no. 1, p. 151$$n1$$p151$$tNature Communications$$v13$$x2041-1723$$y2022
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