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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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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
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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