eprintid: 13304
rev_number: 17
userid: 677
importid: 501
dir: disk0/00/01/33/04
datestamp: 2012-08-03 16:38:25
lastmod: 2019-02-02 15:55:42
status_changed: 2012-08-03 16:38:25
type: article
metadata_visibility: show
contact_email: d.goldstein@duke.edu
item_issues_count: 0
eprint_status: archive
creators_name: Fellay, J
creators_name: Ge, D
creators_name: Shianna, KV
creators_name: Colombo, S
creators_name: Ledergerber, B
creators_name: Cirulli, ET
creators_name: Urban, TJ
creators_name: Zhang, K
creators_name: Gumbs, CE
creators_name: Smith, JP
creators_name: Castagna, A
creators_name: Cozzi-Lepri, A
creators_name: De Luca, A
creators_name: Easterbrook, P
creators_name: Günthard, HF
creators_name: Mallal, S
creators_name: Mussini, C
creators_name: Dalmau, J
creators_name: Martinez-Picado, J
creators_name: Miro, JM
creators_name: Obel, N
creators_name: Wolinsky, SM
creators_name: Martinson, JJ
creators_name: Detels, R
creators_name: Margolick, JB
creators_name: Jacobson, LP
creators_name: Descombes, P
creators_name: Antonarakis, SE
creators_name: Beckmann, JS
creators_name: O'Brien, SJ
creators_name: Letvin, NL
creators_name: McMichael, AJ
creators_name: Haynes, BF
creators_name: Carrington, M
creators_name: Feng, S
creators_name: Telenti, A
creators_name: Goldstein, DB
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creators_email: jmartins@pitt.edu
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creators_id: JMARTINS
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contributors_type: http://www.loc.gov/loc.terms/relators/EDT
contributors_name: McCarthy, Mark I.
title: Common genetic variation and the control of HIV-1 in humans
ispublished: pub
divisions: sch_gsph_infectiousdiseasesmicrobiology
full_text_status: public
abstract: To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC). We also examined the polymorphisms reported in previous candidate gene studies and fail to support a role for any variant outside of the MHC or the chemokine receptor cluster on chromosome 3. In addition, we evaluated functional variants, copy-number polymorphisms, epistatic interactions, and biological pathways. This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians.
date: 2009-12-01
date_type: published
publication: PLoS Genetics
volume: 5
number: 12
refereed: TRUE
issn: 1553-7390
id_number: 10.1371/journal.pgen.1000791
other_id: NLM PMC2791220
pmcid: PMC2791220
pmid: 20041166
mesh_headings: Adult
mesh_headings: Alleles
mesh_headings: Disease Progression
mesh_headings: Female
mesh_headings: Genetic Variation
mesh_headings: Genotype
mesh_headings: HIV Infections--virology
mesh_headings: HIV-1--physiology
mesh_headings: Humans
mesh_headings: Kaplan-Meier Estimate
mesh_headings: Major Histocompatibility Complex--genetics
mesh_headings: Male
mesh_headings: Phenotype
mesh_headings: Polymorphism, Single Nucleotide--genetics
mesh_headings: Viral Load
citation:   Fellay, J and Ge, D and Shianna, KV and Colombo, S and Ledergerber, B and Cirulli, ET and Urban, TJ and Zhang, K and Gumbs, CE and Smith, JP and Castagna, A and Cozzi-Lepri, A and De Luca, A and Easterbrook, P and Günthard, HF and Mallal, S and Mussini, C and Dalmau, J and Martinez-Picado, J and Miro, JM and Obel, N and Wolinsky, SM and Martinson, JJ and Detels, R and Margolick, JB and Jacobson, LP and Descombes, P and Antonarakis, SE and Beckmann, JS and O'Brien, SJ and Letvin, NL and McMichael, AJ and Haynes, BF and Carrington, M and Feng, S and Telenti, A and Goldstein, DB  (2009) Common genetic variation and the control of HIV-1 in humans.  PLoS Genetics, 5 (12).   ISSN 1553-7390     
document_url: http://d-scholarship-dev.library.pitt.edu/13304/1/Common_Genetic_Variation.pdf
document_url: http://d-scholarship-dev.library.pitt.edu/13304/8/licence.txt