Eight novel loci implicate shared genetic etiology in multiple myeloma, AL amyloidosis, and monoclonal gammopathy of unknown significance

0539309 - ÚEM 2021 RIV GB eng J - Článek v odborném periodiku
Chattopadhyay, S. - Thomsen, H. - Weinhold, N. - Meziane, I. - Huhn, S. - da Silva Filho, M.I. - Vodička, Pavel - Vodičková, Ludmila - Hoffmann, P. - Noethen, M.M. - Joeckel, K.H. - Schmidt, B. - Landi, S. - Hájek, R. - Hallmans, G. - Pettersson-Kymmer, U. - Ohlsson, C. - Milani, P. - Merlini, G. - Rowcieno, D. - Hawkins, P. - Hegenbart, U. - Palladini, G. - Wechalekar, A. - Schoenland, S.O. - Houlston, R. - Goldschmidt, H. - Hemminki, K. - Foersti, A.
Eight novel loci implicate shared genetic etiology in multiple myeloma, AL amyloidosis, and monoclonal gammopathy of unknown significance.
Leukemia. Roč. 34, č. 4 (2020), s. 1187-1191. ISSN 0887-6924. E-ISSN 1476-5551
Institucionální podpora: RVO:68378041
Klíčová slova: susceptibility * germline * low-risk genes * Mendelian randomization * immunoglobulin
Obor OECD: Epidemiology
Impakt faktor: 11.528, rok: 2020
Způsob publikování: Omezený přístup
https://www.nature.com/articles/s41375-019-0619-1

Multiple myeloma (MM) is caused by a clonal proliferation of malignant plasma cells in the bone marrow preceded by monoclonal gammopathy of unknown signifikance (MGUS). MGUS can also progress to immunoglobulin light chain amyloidosis (amyloidosis AL). While genome-wide association studies (GWAS)-based germline genetics of each of these have been published, it is not well known to what extent their genetic profiles may be shared. Meta analysis combining large GWAS datasets of the three dyscrasias show strong evidence on shared germline genetics for the three plasma cell dyscrasias.
However, future studies are needed to decipher the functional basis of the risk SNPs. The most significant association at chromosome 7p15.3 (rs75341503) has been identified as a binding site for IRF4 and may offer a therapeutic target for the three dyscrasias

Trvalý link: http://hdl.handle.net/11104/0318706