Fabris Annalisa, Catamo Eulalia, Segat Ludovica, Morgutti Marcello, Arraes Luiz Claudio, de Lima-Filho José L, Crovella Sergio
Genetic Service, IRCCS Burlo Garofolo, Trieste, Italy.
AIDS. 2009 Jan 14;23(2):177-82. doi: 10.1097/QAD.0b013e32832027bf.
The aim of our study was to verify the possible association between an HLA-G 14-bp deletion/insertion polymorphism and perinatal HIV transmission in Brazilian children.
We analyzed the 14-bp deletion/insertion polymorphisms in seronegative (i.e., exposed uninfected, N = 71) and seropositive (exposed infected, N = 175) Brazilian children born from HIV-positive mothers and in healthy controls (n = 175).
HLA-G 14-bp deletion/insertion polymorphism (rs16375) was detected by PCR amplification of the target sequence followed by agarose gel electrophoresis. All the samples were also analyzed by direct sequencing in order to validate the genotyping results.
HIV-exposed uninfected children showed significant differences in their allele and genotype frequencies of the HLA-G 14-bp polymorphism when compared to both seropositive children and healthy controls. The 14-bp-deleted (D) allele was more frequent in exposed uninfected children (79%) than in healthy controls (60%) and HIV-positive children (58%); the higher percentage of the D allele found in the exposed uninfected children with respect to HIV-positive individuals was significantly associated with a reduced risk of vertical transmission. This effect was ascribable to the presence of the D/D homozygous genotype.
Our findings support the possible role for the HLA-G 14-bp deletion/insertion polymorphism in the HIV vertical transmission in Brazilian children. The presence of the D allele and D/D genotype is associated with a protective effect toward HIV perinatal infection.
我们研究的目的是验证巴西儿童中HLA - G 14碱基对缺失/插入多态性与围产期HIV传播之间可能存在的关联。
我们分析了出生于HIV阳性母亲的血清阴性(即暴露但未感染,N = 71)和血清阳性(暴露且感染,N = 175)的巴西儿童以及健康对照(n = 175)中的14碱基对缺失/插入多态性。
通过对目标序列进行PCR扩增,随后进行琼脂糖凝胶电泳来检测HLA - G 14碱基对缺失/插入多态性(rs16375)。为了验证基因分型结果,所有样本也通过直接测序进行了分析。
与血清阳性儿童和健康对照相比,暴露但未感染HIV的儿童在HLA - G 14碱基对多态性的等位基因和基因型频率上显示出显著差异。14碱基对缺失(D)等位基因在暴露但未感染的儿童中(79%)比在健康对照(60%)和HIV阳性儿童(58%)中更常见;在暴露但未感染的儿童中发现的D等位基因相对于HIV阳性个体的较高百分比与垂直传播风险降低显著相关。这种效应归因于D/D纯合基因型的存在。
我们的研究结果支持HLA - G 14碱基对缺失/插入多态性在巴西儿童HIV垂直传播中可能发挥的作用。D等位基因和D/D基因型的存在与对HIV围产期感染的保护作用相关。