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Sökning: WFRF:(Thomsen Niels) > (2015-2019) > Enrichment of B cel...

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FältnamnIndikatorerMetadata
00004851naa a2200457 4500
001oai:lup.lub.lu.se:2d6c4e63-9a82-4dc0-abff-29615a036852
003SwePub
008181010s2018 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/2d6c4e63-9a82-4dc0-abff-29615a0368522 URI
0247 a https://doi.org/10.1186/s10020-018-0031-82 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Chattopadhyay, Subhayanu German Cancer Research Centre,Heidelberg University4 aut0 (Swepub:lu)su1252ch
2451 0a Enrichment of B cell receptor signaling and epidermal growth factor receptor pathways in monoclonal gammopathy of undetermined significance : a genome-wide genetic interaction study
264 c 2018-06-11
264 1b Springer Science and Business Media LLC,c 2018
520 a BACKGROUND: Recent identification of 10 germline variants predisposing to monoclonal gammopathy of undetermined significance (MGUS) explicates genetic dependency of this asymptomatic precursor condition with multiple myeloma (MM). Yet much of genetic burden as well as functional links remain unexplained. We propose a workflow to expand the search for susceptibility loci with genome-wide interaction and for subsequent identification of genetic clusters and pathways.METHODS: Polygenic interaction analysis on 243 cases/1285 controls identified 14 paired risk loci belonging to unique chromosomal bands which were then replicated in two independent sets (case only study, 82 individuals; case/control study 236 cases/ 2484 controls). Further investigation on gene-set enrichment, regulatory pathway and genetic network was carried out with stand-alone in silico tools separately for both interaction and genome-wide association study-detected risk loci.RESULTS: Intronic-PREX1 (20q13.13), a reported locus predisposing to MM was confirmed to have contribution to excess MGUS risk in interaction with SETBP1, a well-established candidate predisposing to myeloid malignancies. Pathway enrichment showed B cell receptor signaling pathway (P < 5.3 × 10- 3) downstream to allograft rejection pathway (P < 5.6 × 10- 4) and autoimmune thyroid disease pathway (P < 9.3 × 10- 4) as well as epidermal growth factor receptor regulation pathway (P < 2.4 × 10- 2) to be differentially regulated. Oncogene ALK and CDH2 were also identified to be moderately interacting with rs10251201 and rs16966921, two previously reported risk loci for MGUS.CONCLUSIONS: We described novel pathways and variants potentially causal for MGUS. The methodology thus proposed to facilitate our search streamlines risk locus-based interaction, genetic network and pathway enrichment analyses.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
7001 a Thomsen, Haukeu German Cancer Research Centre4 aut0 (Swepub:lu)med-hth
7001 a da Silva Filho, Miguel Inaciou German Cancer Research Centre4 aut0 (Swepub:lu)med-md_
7001 a Weinhold, Nielsu University of Arkansas for Medical Sciences4 aut
7001 a Hoffmann, Peru University of Basel4 aut
7001 a Nöthen, Markus Mu University of Bonn4 aut
7001 a Marina, Arendtu University of Duisburg-Essen4 aut
7001 a Jöckel, Karl-Heinzu University of Duisburg-Essen4 aut
7001 a Schmidt, Börgeu University of Duisburg-Essen4 aut
7001 a Pechlivanis, Sonaliu University of Duisburg-Essen4 aut
7001 a Langer, Christianu University of Ulm4 aut
7001 a Goldschmidt, Hartmutu National Centre of Tumor Diseases4 aut
7001 a Hemminki, Kariu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre4 aut0 (Swepub:lu)med-khk
7001 a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre4 aut0 (Swepub:lu)med-asf
7102 a German Cancer Research Centreb Heidelberg University4 org
7730 t Molecular Medicined : Springer Science and Business Media LLCg 24:1q 24:1x 1528-3658x 1076-1551
8564 u http://dx.doi.org/10.1186/s10020-018-0031-8x freey FULLTEXT
8564 u https://molmed.biomedcentral.com/track/pdf/10.1186/s10020-018-0031-8.pdf
8564 8u https://lup.lub.lu.se/record/2d6c4e63-9a82-4dc0-abff-29615a036852
8564 8u https://doi.org/10.1186/s10020-018-0031-8

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