Optics and Imaging Centre, Doris Duke Medical Research Institute, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
Department of Obstetrics and Gynaecology, School of Medicine, University of Missouri, Kansas City, United States.
Eur J Obstet Gynecol Reprod Biol. 2023 Mar;282:133-139. doi: 10.1016/j.ejogrb.2023.01.029. Epub 2023 Jan 25.
This study investigates the association of C1q gene (rs292001 and rs294183) polymorphisms in HIV infected and uninfected preeclamptic women of African ancestry.
The study population consisted of 325 pregnant women of African ancestry grouped into 145 normotensive pregnant women (72 HIV uninfected normotensive, 73 HIV infected normotensive) and 180 preeclamptic pregnant women (103 HIV uninfected preeclamptics, 77 HIV infected preeclamptics). Preeclamptic pregnant women were further sub-grouped into 79 early-onset preeclampsia (EOPE) (40 HIV uninfected EOPE, 39 HIV infected EOPE) and 101 late-onset preeclampsia (LOPE) (63 HIV uninfected LOPE, 38 HIV infected LOPE). Genotyping of complement C1q gene polymorphisms (rs292001 and rs294183) was detected using a TaqMan® SNP Genotyping assay from purified DNA.
No significant differences in allelic and genotype frequencies of rs292001 and rs294183 between preeclamptic and normotensive women were observed. Likewise, there were no significant differences in allelic and genotype frequencies between HIV infected normotensive vs HIV infected preeclampsia and HIV uninfected normotensive vs HIV uninfected preeclampsia for both SNPs. However, the odds ratio of preeclamptic women having the GA genotype was 1:2.
We demonstrate that SNPs of the C1q gene (rs292001 and rs294183) are not associated with the pathogenesis of PE development in women of African ancestry. The role ofC1qrs292001 heterozygous GA is highlighted (with and without HIV infection) may affect susceptibility to PE development. Notably, this dysregulation may affect C1q translation and protein output thus influencing the downstream role of the complement system and functional immunology in HIV infection comorbid with PE.
本研究旨在探讨补体 C1q 基因（rs292001 和 rs294183）多态性与非裔 HIV 感染和未感染先兆子痫妇女的相关性。
研究人群包括 325 名非裔孕妇，分为 145 名正常血压孕妇（72 名未感染 HIV 的正常血压孕妇和 73 名感染 HIV 的正常血压孕妇）和 180 名先兆子痫孕妇（103 名未感染 HIV 的先兆子痫孕妇和 77 名感染 HIV 的先兆子痫孕妇）。先兆子痫孕妇进一步分为 79 例早发型子痫前期（EOPE）（40 名未感染 HIV 的 EOPE 和 39 名感染 HIV 的 EOPE）和 101 例晚发型子痫前期（LOPE）（63 名未感染 HIV 的 LOPE 和 38 名感染 HIV 的 LOPE）。采用 TaqMan® SNP 基因分型检测试剂盒从纯化 DNA 中检测补体 C1q 基因多态性（rs292001 和 rs294183）的基因型。
未发现 rs292001 和 rs294183 等位基因和基因型频率在子痫前期和正常血压妇女之间存在显著差异。同样，在 HIV 感染正常血压与 HIV 感染子痫前期以及 HIV 未感染正常血压与 HIV 未感染子痫前期之间，两个 SNP 的等位基因和基因型频率均无显著差异。然而，GA 基因型子痫前期妇女的比值比为 1:2。
我们表明，C1q 基因（rs292001 和 rs294183）的 SNP 与非裔妇女子痫前期发展的发病机制无关。C1qrs292001 杂合 GA 的作用（有无 HIV 感染）可能影响子痫前期的发展易感性。值得注意的是，这种失调可能会影响 C1q 的翻译和蛋白质输出，从而影响 HIV 感染合并子痫前期的补体系统和功能免疫学的下游作用。
