Regions of homozygosity as risk factors for multiple myeloma.


Journal

Annals of human genetics
ISSN: 1469-1809
Titre abrégé: Ann Hum Genet
Pays: England
ID NLM: 0416661

Informations de publication

Date de publication:
07 2019
Historique:
received: 18 05 2018
revised: 30 11 2018
accepted: 31 01 2019
pubmed: 16 2 2019
medline: 6 5 2020
entrez: 16 2 2019
Statut: ppublish

Résumé

Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed whole-genome homozygosity analysis using single-nucleotide polymorphism genotype data from 2,282 MM cases and 5,197 controls, with replication in an additional 878 MM cases and 7,083 controls. Globally, the distribution of ROH between cases and controls was not significantly different. However, one ROH at chromosome 9q21, harboring the B-cell transcription factor gene KLF9, showed evidence of a consistent association and may therefore warrant further investigation as a candidate risk factor for MM. Overall, our analysis provides little support for a homozygosity signature being a significant factor in MM risk.

Identifiants

pubmed: 30768683
doi: 10.1111/ahg.12304
pmc: PMC6563058
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

231-238

Subventions

Organisme : Medical Research Council
ID : G1001799
Pays : United Kingdom
Organisme : Blood Cancer UK
Pays : United Kingdom
Organisme : Myeloma UK
Pays : International
Organisme : Cancer Research UK
ID : C1298/A8362
Pays : United Kingdom

Informations de copyright

© 2019 The Authors. Annals of Human Genetics published by University College London (UCL) and John Wiley & Sons Ltd.

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Auteurs

Molly Went (M)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Division of Molecular Pathology, The Institute of Cancer Research, London, UK.

Amit Sud (A)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Ni Li (N)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

David C Johnson (DC)

Division of Molecular Pathology, The Institute of Cancer Research, London, UK.

Jonathan S Mitchell (JS)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Martin Kaiser (M)

Division of Molecular Pathology, The Institute of Cancer Research, London, UK.

Richard S Houlston (RS)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

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