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000292338 1001_ $$aThomsen, Hauke$$b0
000292338 245__ $$aHaplotype analysis identifies functional elements in monoclonal gammopathy of unknown significance.
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000292338 520__ $$aGenome-wide association studies (GWASs) based on common single nucleotide polymorphisms (SNPs) have identified several loci associated with the risk of monoclonal gammopathy of unknown significance (MGUS), a precursor condition for multiple myeloma (MM). We hypothesized that analyzing haplotypes might be more useful than analyzing individual SNPs, as it could identify functional chromosomal units that collectively contribute to MGUS risk. To test this hypothesis, we used data from our previous GWAS on 992 MGUS cases and 2910 controls from three European populations. We identified 23 haplotypes that were associated with the risk of MGUS at the genome-wide significance level (p < 5 × 10-8) and showed consistent results among all three populations. In 10 genomic regions, strong promoter, enhancer and regulatory element-related histone marks and their connections to target genes as well as genome segmentation data supported the importance of these regions in MGUS susceptibility. Several associated haplotypes affected pathways important for MM cell survival such as ubiquitin-proteasome system (RNF186, OTUD3), PI3K/AKT/mTOR (HINT3), innate immunity (SEC14L1, ZBP1), cell death regulation (BID) and NOTCH signaling (RBPJ). These pathways are important current therapeutic targets for MM, which may highlight the advantage of the haplotype approach homing to functional units.
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000292338 650_2 $$2MeSH$$aHumans
000292338 650_2 $$2MeSH$$aMonoclonal Gammopathy of Undetermined Significance: genetics
000292338 650_2 $$2MeSH$$aHaplotypes
000292338 650_2 $$2MeSH$$aGenome-Wide Association Study
000292338 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000292338 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000292338 650_2 $$2MeSH$$aMale
000292338 650_2 $$2MeSH$$aFemale
000292338 650_2 $$2MeSH$$aMultiple Myeloma: genetics
000292338 7001_ $$aChattopadhyay, Subhayan$$b1
000292338 7001_ $$aWeinhold, Niels$$b2
000292338 7001_ $$aVodicka, Pavel$$b3
000292338 7001_ $$aVodickova, Ludmila$$b4
000292338 7001_ $$00000-0002-6573-983X$$aHoffmann, Per$$b5
000292338 7001_ $$00000-0002-8770-2464$$aNöthen, Markus M$$b6
000292338 7001_ $$aJöckel, Karl-Heinz$$b7
000292338 7001_ $$aSchmidt, Börge$$b8
000292338 7001_ $$00000-0001-6955-6267$$aHajek, Roman$$b9
000292338 7001_ $$aHallmans, Göran$$b10
000292338 7001_ $$00000-0002-0557-9803$$aPettersson-Kymmer, Ulrika$$b11
000292338 7001_ $$00000-0002-0711-0830$$aSpäth, Florentin$$b12
000292338 7001_ $$aGoldschmidt, Hartmut$$b13
000292338 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b14$$udkfz
000292338 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b15$$eLast author$$udkfz
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