2026-07-23T17:42:40Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/141032024-09-27T17:05:00Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19608

00925njm 22002777a 4500 dc McLaren, Paul J author Pulit, Sara L author Gurdasani, Deepti author Bartha, Istvan author Shea, Patrick R author Pomilla, Cristina author Gupta, Namrata author Gkrania-Klotsas, Effrossyni author Young, Elizabeth H author Bannert, Norbert author Amo, Julia del author Gill, M John author Gilmour, Jill author Kellam, Paul author Kelleher, Anthony D author Sönnerborg, Anders author Wolinsky, Steven M author Zangerle, Robert author Post, Frank A author Fisher, Martin author Haas, David W author Walker, Bruce D author Porter, Kholoud author Goldstein, David B author Sandhu, Manjinder S author de Bakker, Paul I W author Fellay, Jacques author 2017-11 Background. 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. J Infect Dis. 2017 Nov 27;216(9):1063-1069 10.1093/infdis/jix470 1537-6613 The Journal of Infectious Diseases 28968755 http://hdl.handle.net/20.500.12105/14103 HIV host dependency factors HIV-1 control HIV-1 progression Exome sequencing Host genetics of infection Evaluating the Impact of Functional Genetic Variation on HIV-1 Control