Laboratório de Imunogenética e Histocompatibilidade do Departamento de Genética da Universidade Federal do Paraná, Curitiba, Brazil.
Hum Immunol. 2012 Sep;73(9):891-7. doi: 10.1016/j.humimm.2012.06.002. Epub 2012 Jun 22.
The role of HLA-G in several clinical conditions related to reproduction has been investigated. Important polymorphisms have been found within the 5'URR and 3'UTR regions of the HLA-G promoter. The aim of the present study was to investigate 16 SNPs in the 5'URR and 14-bp insertion/deletion (ins/del) polymorphism located in the 3'UTR region of the HLA-G gene and its possible association with the implantation outcome in couples who underwent assisted reproduction treatments (ART). The case group was composed of 25 ART couples. Ninety-four couples with two or more term pregnancies composed the control group. Polymorphism haplotype frequencies of the HLA-G were determined for both groups. The Haplotype 5, Haplotype 8 and Haplotype 11 were absolute absence in ART couples. The HLA-G01:01:02a, HLA-G01:01:02b alleles and the 14-bp ins polymorphism, Haplotype 2, showed an increased frequency in case women and similar distribution between case and control men. However, this susceptibility haplotype is significantly presented in case women and in couple with failure implantation after treatment, which led us to suggest a maternal effect, associated with this haplotype, once their presence in women is related to a higher number of couples who underwent ART.
HLA-G 在与生殖相关的几种临床情况下的作用已经得到了研究。在 HLA-G 启动子的 5'URR 和 3'UTR 区域内发现了重要的多态性。本研究的目的是研究 HLA-G 基因 5'URR 中的 16 个 SNP 和位于 3'UTR 区域的 14-bp 插入/缺失(ins/del)多态性及其与接受辅助生殖治疗(ART)的夫妇的植入结局的可能关联。病例组由 25 对接受 ART 的夫妇组成。94 对有两次或两次以上足月妊娠的夫妇组成对照组。对两组 HLA-G 的多态性单倍型频率进行了测定。在 ART 夫妇中,Haplotype 5、Haplotype 8 和 Haplotype 11 绝对缺失。HLA-G01:01:02a、HLA-G01:01:02b 等位基因和 14-bp ins 多态性、Haplotype 2 在病例组女性中频率增加,而在病例组和对照组男性中分布相似。然而,这种易感单倍型在病例组女性和治疗后植入失败的夫妇中明显存在,这使我们假设存在一种与这种单倍型相关的母系效应,因为它们在女性中的存在与更多接受 ART 的夫妇有关。