Sökning: WFRF:(Ajore Ram) > (2015) > Variants in ELL2 in...
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000 | 03980naa a22008293a 4500 | |
001 | 20194547 | |
003 | SE-LIBR | |
005 | 20170323184007.0 | |
007 | cr|||||||||||| | |
008 | 170323s2015 sw |||| o |||| ||eng c | |
024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2570402 uri |
024 | 7 | a urn:nbn:se:uu:diva-2570402 urn |
024 | 7 | a 10.1038/ncomms82132 doi |
040 | a S | |
041 | 0 | a eng |
042 | 9 EPLK | |
100 | 1 | a Swaminathan, Bhairavi4 aut |
245 | 1 0 | a Variants in ELL2 influencing immunoglobulin levels associate with multiple myelomah [Elektronisk resurs] |
260 | c 2015 | |
500 | a Published | |
506 | 0 | a gratis |
520 | a Multiple myeloma (MM) is characterized by an uninhibited, clonal growth of plasma cells. While first-degree relatives of patients with MM show an increased risk of MM, the genetic basis of inherited MM susceptibility is incompletely understood. Here we report a genome-wide association study in the Nordic region identifying a novel MM risk locus at ELL2 (rs56219066T; odds ratio (OR) = 1.25; P = 9.6 x 10(-10)). This gene encodes a stoichiometrically limiting component of the super-elongation complex that drives secretory-specific immunoglobulin mRNA production and transcriptional regulation in plasma cells. We find that the MM risk allele harbours a Thr298Ala missense variant in an ELL2 domain required for transcription elongation. Consistent with a hypomorphic effect, we find that the MM risk allele also associates with reduced levels of immunoglobulin A (IgA) and G (IgG) in healthy subjects (P = 8.6 x 10(-9) and P = 6.4 x 10(-3), respectively) and, potentially, with an increased risk of bacterial meningitis (OR = 1.30; P = 0.0024). | |
650 | 7 | a Medical and Health Sciences2 hsv |
650 | 7 | a Basic Medicine2 hsv |
650 | 7 | a Immunology in the medical area2 hsv |
650 | 7 | a Medicin och hälsovetenskap2 hsv |
650 | 7 | a Medicinska grundvetenskaper2 hsv |
650 | 7 | a Immunologi inom det medicinska området2 hsv |
700 | 1 | a Thorleifsson, Guomar4 aut |
700 | 1 | a Joud, Magnus4 aut |
700 | 1 | a Ali, Mina4 aut |
700 | 1 | a Johnsson, Ellinor4 aut |
700 | 1 | a Ajore, Ram4 aut |
700 | 1 | a Sulem, Patrick4 aut |
700 | 1 | a Halvarsson, Britt-Marie4 aut |
700 | 1 | a Eyjolfsson, Guomundur4 aut |
700 | 1 | a Haraldsdottir, Vilhelmina4 aut |
700 | 1 | a Hultman, Christina4 aut |
700 | 1 | a Ingelsson, Erik4 aut |
700 | 1 | a Kristinsson, Sigurour Y.4 aut |
700 | 1 | a Kahler, Anna K.4 aut |
700 | 1 | a Lenhoff, Stig4 aut |
700 | 1 | a Masson, Gisli4 aut |
700 | 1 | a Mellqvist, Ulf-Henrik4 aut |
700 | 1 | a Mansson, Robert4 aut |
700 | 1 | a Nelander, Sven4 aut |
700 | 1 | a Olafsson, Isleifur4 aut |
700 | 1 | a Siguroardottir, Olof4 aut |
700 | 1 | a Steingrimsdottir, Hlif4 aut |
700 | 1 | a Vangsted, Annette4 aut |
700 | 1 | a Vogel, Ulla4 aut |
700 | 1 | a Waage, Anders4 aut |
700 | 1 | a Nahi, Hareth4 aut |
700 | 1 | a Gudbjartsson, Daniel F.4 aut |
700 | 1 | a Rafnar, Thorunn4 aut |
700 | 1 | a Turesson, Ingemar4 aut |
700 | 1 | a Gullberg, Urban4 aut |
700 | 1 | a Stefansson, Kari4 aut |
700 | 1 | a Hansson, Markus4 aut |
700 | 1 | a Thorsteinsdottir, Unnur4 aut |
700 | 1 | a Nilsson, Bjorn4 aut |
710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
772 | 1 8 | i channel recordw 19753896 |
773 | 0 8 | i Värdpublikationt Nature Communicationsg 6x 2041-1723 |
856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-257040 |
856 | 4 0 | u http://dx.doi.org/10.1038/ncomms8213 |
856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:828104/FULLTEXT01 |
841 | 5 APISa x ab 170323||0000|||||001||||||000000e 1 | |
024 | 7 | 5 APISa urn:nbn:se:uu:diva-2570402 urn |
852 | 5 APISb APIS | |
856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-257040 |
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