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Genome-wide homozygosity signature and risk of Hodgkin lymphoma
Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of developing Hodgkin lymphoma (HL) we analysed 589 HL...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585760/ https://www.ncbi.nlm.nih.gov/pubmed/26391888 http://dx.doi.org/10.1038/srep14315 |
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author | Sud, Amit Cooke, Rosie Swerdlow, Anthony J. Houlston, Richard S. |
author_facet | Sud, Amit Cooke, Rosie Swerdlow, Anthony J. Houlston, Richard S. |
author_sort | Sud, Amit |
collection | PubMed |
description | Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of developing Hodgkin lymphoma (HL) we analysed 589 HL cases and 5,199 controls genotyped for 484,072 tag single nucleotide polymorphisms (SNPs). Across the genome the cumulative distribution of ROH was not significantly different between cases and controls. Seven ROH at 4q22.3, 4q32.2, 7p12.3–14.1, 7p22.2, 10p11.22–23, 19q13.12-2 and 19p13.2 were associated with HL risk at P < 0.01. Intriguingly 4q22.3 harbours an ROH to which the nuclear factor NF-kappa-B p105 subunit (NFKB1) maps (P = 0.002). The ROH at 19q13.12-2 has previously been implicated in B-cell precursor acute lymphoblastic leukaemia. Aside from these observations which require validation, it is unlikely that levels of measured homozygosity caused by autozygosity, uniparental isodisomy or hemizygosity play a major role in defining HL risk in predominantly outbred populations. |
format | Online Article Text |
id | pubmed-4585760 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-45857602015-09-29 Genome-wide homozygosity signature and risk of Hodgkin lymphoma Sud, Amit Cooke, Rosie Swerdlow, Anthony J. Houlston, Richard S. Sci Rep Article Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of developing Hodgkin lymphoma (HL) we analysed 589 HL cases and 5,199 controls genotyped for 484,072 tag single nucleotide polymorphisms (SNPs). Across the genome the cumulative distribution of ROH was not significantly different between cases and controls. Seven ROH at 4q22.3, 4q32.2, 7p12.3–14.1, 7p22.2, 10p11.22–23, 19q13.12-2 and 19p13.2 were associated with HL risk at P < 0.01. Intriguingly 4q22.3 harbours an ROH to which the nuclear factor NF-kappa-B p105 subunit (NFKB1) maps (P = 0.002). The ROH at 19q13.12-2 has previously been implicated in B-cell precursor acute lymphoblastic leukaemia. Aside from these observations which require validation, it is unlikely that levels of measured homozygosity caused by autozygosity, uniparental isodisomy or hemizygosity play a major role in defining HL risk in predominantly outbred populations. Nature Publishing Group 2015-09-22 /pmc/articles/PMC4585760/ /pubmed/26391888 http://dx.doi.org/10.1038/srep14315 Text en Copyright © 2015, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Sud, Amit Cooke, Rosie Swerdlow, Anthony J. Houlston, Richard S. Genome-wide homozygosity signature and risk of Hodgkin lymphoma |
title | Genome-wide homozygosity signature and risk of Hodgkin lymphoma |
title_full | Genome-wide homozygosity signature and risk of Hodgkin lymphoma |
title_fullStr | Genome-wide homozygosity signature and risk of Hodgkin lymphoma |
title_full_unstemmed | Genome-wide homozygosity signature and risk of Hodgkin lymphoma |
title_short | Genome-wide homozygosity signature and risk of Hodgkin lymphoma |
title_sort | genome-wide homozygosity signature and risk of hodgkin lymphoma |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585760/ https://www.ncbi.nlm.nih.gov/pubmed/26391888 http://dx.doi.org/10.1038/srep14315 |
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