{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Boily-Larouche G"],"funding":["Canadian Institutes of Health Research"],"pagination":["e40706"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3393705"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["7(7)"],"pubmed_abstract":["Mother-to-child transmission (MTCT) is the main cause of HIV-1 infection in children worldwide. Dendritic cell-specific ICAM-3 grabbing-nonintegrin (DC-SIGN, also known as CD209) is an HIV-1 receptor that enhances its transmission to T cells and is expressed on placental macrophages.We have investigated the association between DC-SIGN genetic variants and risk of MTCT of HIV-1 among Zimbabwean infants and characterized the impact of the associated mutations on DC-SIGN expression and interaction with HIV-1. DC-SIGN promoter (p-336C and p-201A) and exon 4 (198Q and 242V) variants were all significantly associated with increased risk of intrauterine (IU) HIV-1 infection. Promoter variants decreased DC-SIGN expression both in vitro and in placental CD163(+) macrophages (Hofbauer cells) of HIV-1 unexposed infants but not of HIV-1 exposed infants. The exon 4 protein-modifying mutations increased HIV-1 capture and transmission to T cells in vitro.This study provides compelling evidence to support an important role of DC-SIGN in IU HIV-1 infection."],"journal":["PloS one"],"pubmed_title":["Naturally-occurring genetic variants in human DC-SIGN increase HIV-1 capture, cell-transfer and risk of mother-to-child transmission."],"pmcid":["PMC3393705"],"funding_grant_id":["MOP-38111"],"pubmed_authors":["Humphrey JH","Ward BJ","Mouland AJ","Labbe AC","Roger M","Zannou DM","Milev MP","Poudrier J","Cohen EA","Zijenah LS","Boily-Larouche G"],"additional_accession":[]},"is_claimable":false,"name":"Naturally-occurring genetic variants in human DC-SIGN increase HIV-1 capture, cell-transfer and risk of mother-to-child transmission.","description":"Mother-to-child transmission (MTCT) is the main cause of HIV-1 infection in children worldwide. Dendritic cell-specific ICAM-3 grabbing-nonintegrin (DC-SIGN, also known as CD209) is an HIV-1 receptor that enhances its transmission to T cells and is expressed on placental macrophages.We have investigated the association between DC-SIGN genetic variants and risk of MTCT of HIV-1 among Zimbabwean infants and characterized the impact of the associated mutations on DC-SIGN expression and interaction with HIV-1. DC-SIGN promoter (p-336C and p-201A) and exon 4 (198Q and 242V) variants were all significantly associated with increased risk of intrauterine (IU) HIV-1 infection. Promoter variants decreased DC-SIGN expression both in vitro and in placental CD163(+) macrophages (Hofbauer cells) of HIV-1 unexposed infants but not of HIV-1 exposed infants. The exon 4 protein-modifying mutations increased HIV-1 capture and transmission to T cells in vitro.This study provides compelling evidence to support an important role of DC-SIGN in IU HIV-1 infection.","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012","modification":"2021-02-19T09:09:51Z","creation":"2019-03-26T23:18:47Z"},"accession":"S-EPMC3393705","cross_references":{"pubmed":["22808239"],"doi":["10.1371/journal.pone.0040706"]}}