Centre for HIV & STIs, National Institute for Communicable Diseases, NHLS, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Clin Immunol. 2013 Dec;149(3):498-508. doi: 10.1016/j.clim.2013.09.005. Epub 2013 Sep 25.
KIR2DS4 is the only activating gene within the A haplotype, and alleles of KIR2DS4 can encode either functional (KIR2DS4-f) or non-functional (KIR2DS4-v) variants. To establish the role of KIR2DS4 in the context of HIV-1 mother-to-child transmission, we KIR genotyped 145 HIV-1 non-transmitting mothers (NT) and their exposed uninfected infants (EU), and 72 HIV-1 transmitting mothers (TR) and their infected infants [intrapartum (IP), in utero (IU) or IU2 (an IU-enriched infected group)]. The frequency of KIR2DS4-v was significantly higher in IU2 infants compared to EU infants (P=0.022, OR=2.88); this association was more significant amongst AA haplotypes (P=0.004, OR=18.4). Possession of KIR2DS4-f in the mother with absence in the infant (M+I- discordance) was associated with a higher risk of IP transmission (P=0.005, OR=3.84); whilst in M-I+ discordance, infant possession of KIR2DS4-v was associated with increased risk of IU acquisition (P=0.002; OR=6.40). This study highlights the importance of KIR2DS4 in HIV-1 transmission/acquisition.
KIR2DS4 是 A 单倍型中唯一的激活基因，KIR2DS4 的等位基因可以编码功能性（KIR2DS4-f）或非功能性（KIR2DS4-v）变体。为了确定 KIR2DS4 在 HIV-1 母婴传播中的作用，我们对 145 名 HIV-1 非传播母亲（NT）及其暴露的未感染婴儿（EU）和 72 名 HIV-1 传播母亲（TR）及其感染婴儿[产时（IP）、宫内（IU）或 IU2（富含 IU 的感染组）]进行了 KIR 基因分型。与 EU 婴儿相比，IU2 婴儿的 KIR2DS4-v 频率明显更高（P=0.022，OR=2.88）；在 AA 单倍型中这种关联更为显著（P=0.004，OR=18.4）。母亲携带 KIR2DS4-f 而婴儿缺失（M+I-不相符）与 IP 传播的风险增加相关（P=0.005，OR=3.84）；而在 M-I+不相符的情况下，婴儿携带 KIR2DS4-v 与 IU 获得的风险增加相关（P=0.002；OR=6.40）。本研究强调了 KIR2DS4 在 HIV-1 传播/获得中的重要性。
