@article {10770, title = {DEFB1 polymorphisms and HIV-1 mother-to-child transmission in Zambian population.}, journal = {J Matern Fetal Neonatal Med}, year = {2018}, month = {2018 Mar 20}, pages = {1-7}, abstract = {

INTRODUCTION: Human Beta Defensin-1 (hBD-1) is a component of the innate immune system, the first line of defence against pathogens, already reported as involved in the susceptibility to HIV-1 infection and HIV-1 mother-to-child transmission (MTCT) in different populations. We investigated the role of DEFB1 gene (encoding for hBD-1) functional polymorphisms in the susceptibility to HIV-1 MTCT in a population from Zambia.

METHODS: Four selected polymorphisms within DEFB1 gene, three at the 5{\textquoteright} untranslated region (UTR), namely -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362) and one in the 3{\textquoteright}UTR, c.*87A > G (rs1800972), were genotyped in 101 HIV-1 positive mothers (26 transmitters -27\% and 75 not transmitters -73\%) and 331 infants born to HIV-1 infected mothers (85 HIV-1 positive -26\% and 246 exposed but not infected -74\%).

RESULTS: DEFB1 c.*87-A allele was more frequent among HIV- children with respect to HIV+ (with intrauterine MTCT). Concerning DEFB1 haplotypes, GCGA haplotype resulted more represented in HIV- than HIV+ infants and DEFB1 ACGG haplotype presented increased frequency in HIV- children respect to HIV+ (with intra-partum MTCT) (p = .02, p = .002 and p = .006, respectively).

CONCLUSIONS: DEFB1 polymorphisms were significantly associated with decreased risk of HIV-1 infection acquisition in the studied Zambian population suggesting that they may play a role in HIV-1 MTCT.

}, issn = {1476-4954}, doi = {10.1080/14767058.2018.1449206}, author = {Zupin, Luisa and Polesello, Vania and Segat, Ludovica and Kamada, Anselmo Jiro and Kuhn, Louise and Crovella, Sergio} } @article {8287, title = {MBL2 genetic polymorphisms and HIV-1 mother-to-child transmission in Zambia.}, journal = {Immunol Res}, volume = {64}, year = {2016}, month = {2016 Jun}, pages = {775-84}, abstract = {

Since antiretroviral drugs have been introduced to prevent mother-to-child transmission, the risk of HIV-1 infection in infants has decreased considerably worldwide. Nevertheless, many factors are involved in viral transmission and host susceptibility to infection. The immune system and its components, including mannose binding protein C (encoding by MBL2 gene), are already known to play an important role in this scenario. In the present study, 313 children and 98 of their mothers from Zambia were genotyped for the MBL2 promoter HL (rs11003125) and XY (rs7096206) polymorphisms and exon 1 D (rs5030737, at codon 52) B (rs1800450, at codon 54) and C (rs1800451, at codon 57) polymorphisms in order to investigate the potential role of these genetic variants in HIV-1 mother-to-child transmission. No statistical significant association was observed comparing transmitter and non-transmitter mothers and also confronting HIV-positive and HIV-negative children. The findings of the current study obtained on mother and children from Zambia evidence lack of association between MBL2 functional polymorphisms and HIV-1 mother-to-child transmission.

}, issn = {1559-0755}, doi = {10.1007/s12026-015-8779-1}, author = {Zupin, Luisa and Polesello, Vania and Segat, Ludovica and Kuhn, Louise and Crovella, Sergio} } @article {8306, title = {Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression.}, journal = {J Acquir Immune Defic Syndr}, volume = {72}, year = {2016}, month = {2016 Jul 1}, pages = {237-41}, abstract = {

Bone marrow stromal cell antigen-2 (BST-2)/Tetherin is a restriction factor that prevents Human immunodeficiency virus type 1 (HIV-1) release from infected cells and mediates pro-inflammatory cytokine production. This study investigated the risk conferred by single nucleotide polymorphisms (rs919266, rs9192677, and rs9576) at BST-2 coding gene (BST2) in HIV-1 mother-to-child transmission and in disease progression. Initially, 101 HIV-1+ pregnant women and 331 neonates exposed to HIV-1 from Zambia were enrolled. Additional BST2 single nucleotide polymorphism analyses were performed in 2 cohorts with acquired immunodeficiency syndrome (AIDS) progression: an adult Brazilian cohort (37 rapid, 30 chronic and 21 long-term non-progressors) and an Italian pediatric cohort (21 rapid and 67 slow progressors). The rs9576A allele was nominally associated with protection during breastfeeding (P = 0.019) and individuals carrying rs919266 GA showed slower progression to AIDS (P = 0.033). Despite the influence of rs919266 and rs9576 on BST2 expression being still undetermined, a preventive role by BST2 polymorphisms was found during HIV-1 infection.

}, issn = {1944-7884}, doi = {10.1097/QAI.0000000000000949}, author = {Kamada, Anselmo J and Bianco, Anna M and Zupin, Luisa and Girardelli, Martina and Matte, Maria C C and Medeiros, R{\'u}bia Mar{\'\i}lia de and Almeida, Sabrina Esteves de Matos and Rocha, Marineide M and Segat, Ludovica and Chies, Jos{\'e} A B and Kuhn, Louise and Crovella, Sergio} }