Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,20...

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Detalles Bibliográficos
Autores: Benavente, Yolanda, Campo Güerri, Elias
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/120862
Acceso en línea:https://hdl.handle.net/2445/120862
Access Level:acceso abierto
Palabra clave:Leucèmia limfocítica crònica
Càncer
Chronic lymphocytic leukemia
Cancer
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spelling Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemiaBenavente, YolandaCampo Güerri, EliasLeucèmia limfocítica crònicaCàncerChronic lymphocytic leukemiaCancerSeveral chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10−13), 1q42.13 (rs41271473, P=1.06 × 10−10), 4q24 (rs71597109, P=1.37 × 10−10), 4q35.1 (rs57214277, P=3.69 × 10−8), 6p21.31 (rs3800461, P=1.97 × 10−8), 11q23.2 (rs61904987, P=2.64 × 10−11), 18q21.1 (rs1036935, P=3.27 × 10−8), 19p13.3 (rs7254272, P=4.67 × 10−8) and 22q13.33 (rs140522, P=2.70 × 10−9). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response.Nature Publishing Group2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/120862Articles publicats en revistes (Fonaments Clínics)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1038/ncomms14175Nature Communications, 2017, vol. 8, num. 14175https://doi.org/10.1038/ncomms14175cc-by (c) Benavente, Yolanda et al., 2017http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1208622026-05-27T06:46:51Z
dc.title.none.fl_str_mv Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
title Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
spellingShingle Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Benavente, Yolanda
Leucèmia limfocítica crònica
Càncer
Chronic lymphocytic leukemia
Cancer
title_short Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
title_full Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
title_fullStr Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
title_full_unstemmed Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
title_sort Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
dc.creator.none.fl_str_mv Benavente, Yolanda
Campo Güerri, Elias
author Benavente, Yolanda
author_facet Benavente, Yolanda
Campo Güerri, Elias
author_role author
author2 Campo Güerri, Elias
author2_role author
dc.subject.none.fl_str_mv Leucèmia limfocítica crònica
Càncer
Chronic lymphocytic leukemia
Cancer
topic Leucèmia limfocítica crònica
Càncer
Chronic lymphocytic leukemia
Cancer
description Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10−13), 1q42.13 (rs41271473, P=1.06 × 10−10), 4q24 (rs71597109, P=1.37 × 10−10), 4q35.1 (rs57214277, P=3.69 × 10−8), 6p21.31 (rs3800461, P=1.97 × 10−8), 11q23.2 (rs61904987, P=2.64 × 10−11), 18q21.1 (rs1036935, P=3.27 × 10−8), 19p13.3 (rs7254272, P=4.67 × 10−8) and 22q13.33 (rs140522, P=2.70 × 10−9). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response.
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/120862
url https://hdl.handle.net/2445/120862
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1038/ncomms14175
Nature Communications, 2017, vol. 8, num. 14175
https://doi.org/10.1038/ncomms14175
dc.rights.none.fl_str_mv cc-by (c) Benavente, Yolanda et al., 2017
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Benavente, Yolanda et al., 2017
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv Articles publicats en revistes (Fonaments Clínics)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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