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Genomewide association study on monoclonal gammopathy of unknown significance (MGUS)

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F17%3A00476864" target="_blank" >RIV/68378041:_____/17:00476864 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/17:10364000 RIV/00216208:11140/17:10364000 RIV/65269705:_____/17:00067552 RIV/00064173:_____/17:N0000033 RIV/00843989:_____/17:E0106412

  • Result on the web

    <a href="http://dx.doi.org/10.1111/ejh.12892" target="_blank" >http://dx.doi.org/10.1111/ejh.12892</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1111/ejh.12892" target="_blank" >10.1111/ejh.12892</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Genomewide association study on monoclonal gammopathy of unknown significance (MGUS)

  • Original language description

    ObjectivesTo identify germ line variants contributing to the development of monoclonal gammopathy of undetermined significance (MGUS), an asymptomatic premalignant precursor for multiple myeloma (MM). nnMethodsWe conducted the first genomewide association study (GWAS) on MGUS on 243 German cases with a replication on 294 Czech cases. Identified loci were further analyzed in 1508 German MM patients. New MM loci recently reported in a meta-analysis were also tested in the MGUS GWAS. nnResultsIn GWAS, we identified 10 loci contributing to development of MGUS at P-value threshold of 10(-5). The Czech cohort gave support for two associations (6q26, rs6933936, 7p21.3 rs10251201). In GWAS, rs974120 (8p23.2) reached genomewide significance (P=2.94x10(-9)), with a nominal significance in MM. The locus of rs974120 shows marks of transcriptional activity in leukemia according to ENCODE data. rs10251201 (7p21.3), rs9318227 (13q22.1), and rs10405859 (19q13.32) were associated with markers related to leukemogenesis and immune and inflammatory responses. Two newly identified candidate loci for MM, rs1948915 (8q24.21) and rs8058578 (16p11.2), were nominally associated with MGUS. nnConclusionsThese data allow a cautious first proposal for a germ line architecture of MGUS with links to leukemia and autoimmune conditions, the latter agreeing with a family study showing clustering of MGUS with autoimmune diseases.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10608 - Biochemistry and molecular biology

Result continuities

  • Project

    <a href="/en/project/LO1503" target="_blank" >LO1503: BIOMEDIC</a><br>

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2017

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    European Journal of Haematology

  • ISSN

    0902-4441

  • e-ISSN

  • Volume of the periodical

    99

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    DK - DENMARK

  • Number of pages

    10

  • Pages from-to

    70-79

  • UT code for WoS article

    000403724300009

  • EID of the result in the Scopus database

    2-s2.0-85019753807