The impact of bone marrow stromal antigen-2 (BST2) gene variants on HIV-1 control in black South African individuals.
Adult
Aged
Alleles
Antigens, CD
/ genetics
Black People
/ genetics
Disease Susceptibility
Female
GPI-Linked Proteins
/ genetics
Gene Frequency
Genetic Predisposition to Disease
Genetic Variation
Genotype
HIV Infections
/ epidemiology
HIV-1
Humans
Linkage Disequilibrium
Male
Middle Aged
Polymorphism, Genetic
Polymorphism, Single Nucleotide
South America
/ epidemiology
Young Adult
Black South Africans
Elite controllers (ECs)
HIV-1 control
Tetherin/bone marrow stromal cell antigen 2 (BST2)
Journal
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases
ISSN: 1567-7257
Titre abrégé: Infect Genet Evol
Pays: Netherlands
ID NLM: 101084138
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
27
11
2019
revised:
23
01
2020
accepted:
28
01
2020
pubmed:
2
2
2020
medline:
17
6
2021
entrez:
2
2
2020
Statut:
ppublish
Résumé
Bone marrow stromal cell antigen 2 (BST2 or tetherin) is a host-encoded, interferon-inducible antiviral restriction factor which blocks the release of enveloped viruses. Few studies have assessed the role of BST2 polymorphisms on HIV-1 acquisition or disease progression in sub-Saharan Africa. This study investigated the frequency of four HIV-1-associated BST2 variants rs3217318, rs12609479, rs10415893 and rs113189798 in uninfected and HIV-1 infected black South Africans. Homozygosity for the rs12609479-A minor allele, previously associated with decreased HIV-1 acquisition risk, was underrepresented in HIV-1 uninfected black South Africans (2%) compared to reference African (9%) and in particular European populations (61%) (p = .047 and p < .0001, respectively). To determine if any of these gene variants influenced HIV-1 control in the absence of antiretroviral treatment (ART), we compared HIV-1 infected ART-naïve progressors [n = 72] and controllers [n = 71], the latter includes elite controllers [EC: n = 23; VL < 50 RNA copies/ml]. Heterozygosity for the rs12609479 SNP (G/A) was enriched in progressors compared to ECs (47.2% vs 21.7%, OR = 3.50 [1.16-10.59], p = .03), while rs113189798 heterozygosity (A/G) showed a strong trend of overrepresentation in ECs compared to progressors (47.8% vs 26.4%, OR = 0.39 [0.14-1.04], p = .07). Heterozygosity for the promoter indel rs3217318 (i19/Δ19) was associated with a faster rate of CD4
Identifiants
pubmed: 32006707
pii: S1567-1348(20)30048-4
doi: 10.1016/j.meegid.2020.104216
pmc: PMC8752124
mid: NIHMS1557384
pii:
doi:
Substances chimiques
Antigens, CD
0
BST2 protein, human
0
GPI-Linked Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
104216Subventions
Organisme : NIAID NIH HHS
ID : K24 AI001637
Pays : United States
Organisme : NIAID NIH HHS
ID : P30 AI094189
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL090312
Pays : United States
Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare no conflict of interest.
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