Leandro Dalila Bernardes, Celerino da Silva Ronaldo, Rodrigues Jessyca Kalynne Farias, Leite Maria Carollayne Gonçalves, Arraes Luiz Claudio, Coelho Antonio Victor Campos, Crovella Sergio, Zupin Luisa, Guimarães Rafael Lima
Department of Genetics, Federal University of Pernambuco (UFPE), Avenida da Engenharia, S/N, Cidade Universitária, Recife 50670-901, PE, Brazil.
Keizo Asami Institute (iLIKA), Federal University of Pernambuco (UFPE), Avenida Prof. Moraes Rego, S/N, Cidade Universitária, Recife 50670-901, PE, Brazil.
Life (Basel). 2023 Jan 31;13(2):397. doi: 10.3390/life13020397.
Mother-to-children transmission (MTCT) is the main infection route for HIV-1 in children, and may occur during pregnancy, delivery, and/or postpartum. It is a multifactorial phenomenon, where genetic variants play an important role. This study aims at analyzing the influence of clinical epidemiological characteristics and a variant (rs12252) in interferon-induced transmembrane protein 3 (), a gene encoding an important viral restriction factor, on the susceptibility to HIV-1 mother-to-children transmission (MTCT). A case-control study was performed on 209 HIV-1-infected mothers and their exposed infected (87) and uninfected (122) children from Pernambuco, Brazil. Clinical-epidemiological characteristics are significantly associated with MTCT susceptibility. Transmitter mothers have a significantly lower age at delivery, late diagnosis, deficiency in ART use (pregnancy and delivery), and detectable viral load in the third trimester of pregnancy compared with non-transmitter mothers. Infected children show late diagnosis, vaginal delivery frequency, and tend to breastfeed, differing significantly from uninfected children. The rs12252-C allele and TC/CC genotypes (dominant model) are significantly more frequent among infected than uninfected children, but the statistical significance does not remain when adjusted for clinical factors. No significant differences are observed between transmitter and non-transmitter mothers in relation to the variant.
母婴传播（MTCT）是儿童感染HIV-1的主要途径，可能发生在孕期、分娩期和/或产后。这是一种多因素现象，其中基因变异起着重要作用。本研究旨在分析临床流行病学特征以及干扰素诱导跨膜蛋白3（编码一种重要病毒限制因子的基因）中的一个变异（rs12252）对HIV-1母婴传播（MTCT）易感性的影响。对来自巴西伯南布哥州的209名感染HIV-1的母亲及其受暴露感染（87名）和未感染（122名）的儿童进行了一项病例对照研究。临床流行病学特征与MTCT易感性显著相关。与未传播母亲相比，传播母亲的分娩年龄显著更小、诊断延迟、抗逆转录病毒治疗（孕期和分娩期）使用不足以及孕期第三个月可检测到病毒载量。感染儿童表现出诊断延迟、阴道分娩频率以及倾向于母乳喂养，与未感染儿童有显著差异。rs12252-C等位基因和TC/CC基因型（显性模型）在感染儿童中比未感染儿童中显著更常见，但在根据临床因素进行调整后，统计学显著性不再存在。在传播母亲和未传播母亲之间，关于该变异未观察到显著差异。
