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dc.contributor.authorMcLaren, Paul J
dc.contributor.authorPulit, Sara L
dc.contributor.authorGurdasani, Deepti
dc.contributor.authorBartha, Istvan
dc.contributor.authorShea, Patrick R
dc.contributor.authorPomilla, Cristina
dc.contributor.authorGupta, Namrata
dc.contributor.authorGkrania-Klotsas, Effrossyni
dc.contributor.authorYoung, Elizabeth H
dc.contributor.authorBannert, Norbert
dc.contributor.authorAmo, Julia del 
dc.contributor.authorGill, M John
dc.contributor.authorGilmour, Jill
dc.contributor.authorKellam, Paul
dc.contributor.authorKelleher, Anthony D
dc.contributor.authorSönnerborg, Anders
dc.contributor.authorWolinsky, Steven M
dc.contributor.authorZangerle, Robert
dc.contributor.authorPost, Frank A
dc.contributor.authorFisher, Martin
dc.contributor.authorHaas, David W
dc.contributor.authorWalker, Bruce D
dc.contributor.authorPorter, Kholoud
dc.contributor.authorGoldstein, David B
dc.contributor.authorSandhu, Manjinder S
dc.contributor.authorde Bakker, Paul I W
dc.contributor.authorFellay, Jacques
dc.date.accessioned2022-04-18T12:07:49Z
dc.date.available2022-04-18T12:07:49Z
dc.date.issued2017-11
dc.identifier.citationJ Infect Dis. 2017 Nov 27;216(9):1063-1069es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/14103
dc.description.abstractBackground. Previous genetic association studies of human immunodeficiency virus-1 (HIV-1) progression have focused on common human genetic variation ascertained through genome-wide genotyping. Methods. We sought to systematically assess the full spectrum of functional variation in protein coding gene regions on HIV-1 progression through exome sequencing of 1327 individuals. Genetic variants were tested individually and in aggregate across genes and gene sets for an influence on HIV-1 viral load. Results. Multiple single variants within the major histocompatibility complex (MHC) region were observed to be strongly associated with HIV-1 outcome, consistent with the known impact of classical HLA alleles. However, no single variant or gene located outside of the MHC region was significantly associated with HIV progression. Set-based association testing focusing on genes identified as being essential for HIV replication in genome-wide small interfering RNA (siRNA) and clustered regularly interspaced short palindromic repeats (CRISPR) studies did not reveal any novel associations. Conclusions. These results suggest that exonic variants with large effect sizes are unlikely to have a major contribution to host control of HIV infection.es_ES
dc.description.sponsorshipThis study has been financed in part within the framework of the Swiss HIV Cohort Study (www.shcs.ch) project #651 and supported by the Swiss National Science Foundation (www.snf.ch) grant #148522 (J.F.). The International HIV Controllers Study was made possible through a generous donation from the Mark and Lisa Schwartz Foundation and a subsequent award from the Collaboration for AIDS Vaccine Discovery of the Bill and Melinda Gates Foundation (www.cavd.org). This work was also supported in part by the Harvard University Center for AIDS Research (cfar.globalhealth.harvard.edu) grant P-30-AI060354; University of California San Francisco (UCSF) Center for AIDS Research (cfar.ucsf.edu) grant P-30 AI27763; UCSF Clinical and Translational Science Institute (https://ctsi.ucsf.edu) grant UL1 RR024131; Center for AIDS Research Network of Integrated Clinical Systems (http://cfar.globalhealth.harvard.edu) grant R24 AI067039; and the National Institutes for Health (www.nih.gov) grants AI28568 and AI030914 (B.D.W.). The AIDS Clinical Trials Group was supported by NIH grants AI069513, AI34835, AI069432, AI069423, AI069477, AI069501, AI069474, AI069428, AI69467, AI069415, Al32782, AI27661, AI25859, AI28568, AI30914, AI069495, AI069471, AI069532, AI069452, AI069450, AI069556, AI069484, AI069472, AI34853, AI069465, AI069511, AI38844, AI069424, AI069434, AI46370, AI68634, AI069502, AI069419, AI068636, RR024975, AI077505, AI110527, and TR000445 (D.W.H.). For the CASCADE Consortium, the research leading to these results has received funding from the European Union Seventh Programme (FP7/2007–2013) under EuroCoord (www.eurocoord.net) grant agreement no. 260694 (K.P.) and the Spanish Network of HIV/AIDS grant nos. RD06/006, RD12/0017/0018 and RD16CIII/0002/0006 (J.DA.). A portion of the data in this manuscript were collected by the Multicenter AIDS Cohort Study (MACS). MACS (Principal Investigators): Johns Hopkins University Bloomberg School of Public Health (Joseph Margolick, Todd Brown), U01-AI35042; Northwestern University (Steven Wolinsky), U01-AI35039; University of California, Los Angeles (Roger Detels, Oto Martinez-Maza, Otto Yang), U01-AI35040; University of Pittsburgh (Charles Rinaldo, Lawrence A. Kingsley, Jeremy J. Martinson), U01-AI35041; the Center for Analysis and Management of MACS, Johns Hopkins University Bloomberg School of Public Health (Lisa Jacobson, Gypsyamber D’Souza), UM1-AI35043. The MACS is funded primarily by the National Institute of Allergy and Infectious Diseases (NIAID), with additional co-funding from the National Cancer Institute (NCI), the National Institute on Drug Abuse (NIDA), and the National Institute of Mental Health (NIMH). Targeted supplemental funding for specific projects was also provided by the National Heart, Lung, and Blood Institute (NHLBI), and the National Institute on Deafness and Communication Disorders (NIDCD). MACS data collection is also supported by UL1-TR001079 (JHU ICTR) from the National Center for Advancing Translational Sciences (NCATS) a component of the National Institutes of Health (NIH), and NIH Roadmap for Medical Research. The contents of this publication are solely the responsibility of the authors and do not represent the official views of the National Institutes of Health (NIH), Johns Hopkins ICTR, or NCATS. The MACS website is located at http://aidscohortstudy.org/es_ES
dc.language.isoenges_ES
dc.publisherOxford University Press es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectHIV host dependency factorses_ES
dc.subjectHIV-1 controles_ES
dc.subjectHIV-1 progressiones_ES
dc.subjectExome sequencinges_ES
dc.subjectHost genetics of infectiones_ES
dc.subject.meshWhole Exome Sequencing es_ES
dc.subject.meshAdult es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGenetic Predisposition to Disease es_ES
dc.subject.meshGenetic Variation es_ES
dc.subject.meshGenotype es_ES
dc.subject.meshHIV Infections es_ES
dc.subject.meshHIV-1 es_ES
dc.subject.meshHost-Pathogen Interactions es_ES
dc.subject.meshHumans es_ES
dc.subject.meshMale es_ES
dc.subject.meshMiddle Aged es_ES
dc.subject.meshPolymorphism, Single Nucleotidees_ES
dc.subject.meshViral Load es_ES
dc.titleEvaluating the Impact of Functional Genetic Variation on HIV-1 Controles_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.identifier.pubmedID28968755es_ES
dc.format.volume216es_ES
dc.format.number9es_ES
dc.format.page1063-1069es_ES
dc.identifier.doi10.1093/infdis/jix470es_ES
dc.contributor.funderSwiss National Science Foundation es_ES
dc.contributor.funderSwiss HIV Cohort Study es_ES
dc.contributor.funderHarvard University (Estados Unidos) es_ES
dc.contributor.funderUniversity of California, San Francisco (Estados Unidos) es_ES
dc.contributor.funderUnión Europea. Comisión Europea. 7 Programa Marco es_ES
dc.contributor.funderRed de Investigación Cooperativa en Investigación en Sida (España) es_ES
dc.contributor.funderNIH - National Institute of Allergy and Infectious Diseases (NIAID) (Estados Unidos) es_ES
dc.contributor.funderNIH - National Cancer Institute (NCI) (Estados Unidos) es_ES
dc.contributor.funderNIH - National Institute on Drug Abuse (NIDA) (Estados Unidos) es_ES
dc.contributor.funderNIH - National Institute of Mental Health (NIMH) (Estados Unidos) es_ES
dc.contributor.funderNIH - National Heart, Lung, and Blood Institute (NHLBI) (Estados Unidos) es_ES
dc.contributor.funderNIH - National Institute on Deafness and Communication Disorders (NIDCD) (Estados Unidos) es_ES
dc.description.peerreviewedes_ES
dc.identifier.e-issn1537-6613es_ES
dc.relation.publisherversionhttps://doi.org/10.1093/infdis/jix470es_ES
dc.identifier.journalThe Journal of Infectious Diseaseses_ES
dc.repisalud.centroISCIII::Centro Nacional de Epidemiologíaes_ES
dc.repisalud.institucionISCIIIes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/260694/EUes_ES
dc.rights.accessRightsopen accesses_ES
dc.relation.projectFECYTinfo:eu-repo/grantAgreement/ES/RD06/006es_ES
dc.relation.projectFECYTinfo:eu-repo/grantAgreement/ES/RD12/0017/0018es_ES
dc.relation.projectFECYTinfo:eu-repo/grantAgreement/ES/RD16CIII/0002/0006es_ES


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Atribución 4.0 Internacional
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