Genome-wide meta-analysis of monoclonal gammopathy of undetermined significance (MGUS) identifies risk loci impacting IRF-6

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F22%3AE0109550" target="_blank" >RIV/00843989:_____/22:E0109550 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/22:10443287 RIV/00216208:11140/22:10443287 RIV/61988987:17110/22:A2302FMO RIV/68378041:_____/22:00567831

Result on the web

<a href="https://www.nature.com/articles/s41408-022-00658-w.pdf" target="_blank" >https://www.nature.com/articles/s41408-022-00658-w.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41408-022-00658-w" target="_blank" >10.1038/s41408-022-00658-w</a>

Result language

angličtina

Original language name

Genome-wide meta-analysis of monoclonal gammopathy of undetermined significance (MGUS) identifies risk loci impacting IRF-6

Original language description

Monoclonal gammopathy of undetermined significance (MGUS) is a benign plasma cell disorder, common in the Western population (3–5% ?50 years) and characterized by an asymptomatic clonal plasma cell expansion [1]. MGUS progresses to multiple myeloma (MM) at a rate of 1% per year [1], but can also progress to light chain amyloidosis (AL amyloidosis), Waldenström macroglobulinemia, and lymphoma. Familial clustering of MGUS or MM support the role for genetic susceptibility [2]. MM and MGUS have shared heritability, with a genetic correlation of 55% and SNP-based heritability estimates of 17% and 15%, respectively (3,4). This suggests a large portion of missing heritability to be identified. Previous genome-wide association studies (GWAS) have successfully identified 24 common loci associated with MM risk [3, 4]; of these, 12 are also associated with MGUS [5]. Twenty additional loci have been identified for risk of MGUS but the impact of these loci on progression is unknown [5, 6]. Identifying additional common variants contributing to MGUS may elucidate the unaccounted missing heritability for both MGUS and MM. Further, understanding genetic determinants of MGUS are important regardless of MM, given the associations of MGUS with multiple conditions, not just MM. In this study, we performed the largest MGUS GWAS meta-analysis to date and validated associations of known MM/MGUS risk variants.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30205 - Hematology

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2022

Confidentiality

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

Name of the periodical

Blood cancer journal

ISSN

2044-5385

e-ISSN

2044-5385

Volume of the periodical

16

Issue of the periodical within the volume

article 60

Country of publishing house

GB - UNITED KINGDOM

Number of pages

5

Pages from-to

1-5

UT code for WoS article

000783707700002

EID of the result in the Scopus database

2-s2.0-85128121039