Zupin Luisa, Polesello Vania, Segat Ludovica, Kuhn Louise, Crovella Sergio
Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Immunol Res. 2016 Jun;64(3):775-84. doi: 10.1007/s12026-015-8779-1.
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.
自从引入抗逆转录病毒药物以预防母婴传播以来，全球范围内婴儿感染HIV-1的风险已大幅降低。然而，病毒传播和宿主易感性涉及许多因素。已知免疫系统及其组成部分，包括甘露糖结合蛋白C（由MBL2基因编码），在这种情况下发挥重要作用。在本研究中，对来自赞比亚的313名儿童及其98名母亲进行了MBL2启动子HL（rs11003125）和XY（rs7096206）多态性以及外显子1 D（rs5030737，第52密码子）、B（rs1800450，第54密码子）和C（rs1800451，第57密码子）多态性的基因分型，以研究这些基因变异在HIV-1母婴传播中的潜在作用。比较传播和未传播HIV的母亲以及对比HIV阳性和HIV阴性儿童时，未观察到统计学上的显著关联。本研究针对赞比亚母亲和儿童的结果表明，MBL2功能多态性与HIV-1母婴传播之间缺乏关联。
