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@article{1398974,
author = {Thomsen, H. and Campo, C. and Weinhold, N. and Silva, M.I.da and Pour, Luděk and Gregora, E. and Vodicka, P. and Vodickova, L. and Hoffmann, P. and Nothen, M.M. and Jockel, K.H. and Langer, C. and Hájek, Roman and Goldschmidt, H. and Hemminki, K. and Forsti, A.},
article_location = {Hoboken},
article_number = {1},
doi = {http://dx.doi.org/10.1111/ejh.12892},
keywords = {germ line; low-risk genes; myeloma; susceptibility},
language = {eng},
issn = {0902-4441},
journal = {European Journal of Haematology},
title = {Genomewide association study on monoclonal gammopathy of unknown significance (MGUS)},
url = {http://dx.doi.org/10.1111/ejh.12892},
volume = {99},
year = {2017}
}
TY - JOUR
ID - 1398974
AU - Thomsen, H. - Campo, C. - Weinhold, N. - Silva, M.I.da - Pour, Luděk - Gregora, E. - Vodicka, P. - Vodickova, L. - Hoffmann, P. - Nothen, M.M. - Jockel, K.H. - Langer, C. - Hájek, Roman - Goldschmidt, H. - Hemminki, K. - Forsti, A.
PY - 2017
TI - Genomewide association study on monoclonal gammopathy of unknown significance (MGUS)
JF - European Journal of Haematology
VL - 99
IS - 1
SP - 70-79
EP - 70-79
PB - Wiley-Blackwell
SN - 09024441
KW - germ line
KW - low-risk genes
KW - myeloma
KW - susceptibility
UR - http://dx.doi.org/10.1111/ejh.12892
L2 - http://dx.doi.org/10.1111/ejh.12892
N2 - ObjectivesTo identify germ line variants contributing to the development of monoclonal gammopathy of undetermined significance (MGUS), an asymptomatic premalignant precursor for multiple myeloma (MM). MethodsWe 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. ResultsIn 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. ConclusionsThese 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.
ER -
THOMSEN, H., C. CAMPO, N. WEINHOLD, M.I.da SILVA, Luděk POUR, E. GREGORA, P. VODICKA, L. VODICKOVA, P. HOFFMANN, M.M. NOTHEN, K.H. JOCKEL, C. LANGER, Roman HÁJEK, H. GOLDSCHMIDT, K. HEMMINKI a A. FORSTI. Genomewide association study on monoclonal gammopathy of unknown significance (MGUS). \textit{European Journal of Haematology}. Hoboken: Wiley-Blackwell, 2017, roč.~99, č.~1, s.~70-79. ISSN~0902-4441. Dostupné z: https://dx.doi.org/10.1111/ejh.12892.
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