MBL2 genetic polymorphisms and HIV-1 mother-to-child transmission in Zambia
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ORIGINAL ARTICLE
MBL2 genetic polymorphisms and HIV-1 mother-to-child transmission in Zambia Luisa Zupin1,2 • Vania Polesello1 • Ludovica Segat1 • Louise Kuhn3 Sergio Crovella1,2
•
Ó Springer Science+Business Media New York 2016
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.
& Luisa Zupin [email protected] 1
Institute for Maternal and Child Health IRCCS ‘‘Burlo Garofolo’’, Trieste, Italy
2
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy
3
Gertrude H. Sergievsky Center and Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA
Keywords MBL2 HIV-1 Mother-to-child transmission Innate immunity
Introduction According to the World Health Organization and UNAIDS data on Human Immunodeficiency virus type 1 (HIV-1) epidemiology, globally 35 million people were living with HIV-1 in 2014 and approximately 2.1 million people were newly infected with HIV-1. Sub-Saharan Africa is the most affected region with 24.7 million HIV-1-infected persons, where women represented the 60 % of adults with HIV-1 (57 % of the world’s HIV-1-positive women). Although antiretroviral prevention of mother-to-child transmission (MTCT) has lead to a decrease in the total number of children born with HIV-1, nevertheless HIV-1 continues to influence maternal and child mortality rates in the countries of this area [1, 2]. Without preventive interventions, children born and breastfed by HIV-1-infected mothers have about a 10 % probability of acquiring infection during pregnancy, a 15 % of probability during delivery [3, 4] and an additional risk of between 7 and 22 % during breastfeeding [5, 6]. The susceptibility to HIV-1 infection is a complex phenomenon that results from interaction of environmental factors and host’s genetic background. The major histocompatibility complex (MHC) [7] and chemokine receptors [8] were the first main families of hos
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