Kono Ai, Shinya Kaori, Nakayama Tomohiro, Shikata Elisa, Yamamoto Tatsuo, Kawana Kei
Department of Obstetrics and Gynecology, Nihon University School of Medicine , Tokyo, Japan.
Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine , Tokyo, Japan.
Hypertens Pregnancy. 2021 Feb;40(1):88-96. doi: 10.1080/10641955.2021.1872613. Epub 2021 Jan 18.
: Hypertensive disorders of pregnancy (HDP) are thought to be a multifactorial genetic disease. Myosin light chain phosphorylation, which is involved in the regulation of vascular smooth muscle contraction and relaxation and thus contributes to the maintenance of blood pressure, is related to HDP. The official symbol of the gene for the production of MYPT1 protein is gene. Thus, we investigated the possibility that the gene is related to HDP. : Subjects were 194 pregnant women with HDP and a control group of 262 pregnant women from those women examined. Four SNVs (rs7296839, rs11114256, rs2596793, and rs2694657) were selected from the gene region. The HDP group was divided according to disease type, and each group was analyzed in comparison with the control group. : In the association analysis using the gene, there were significant differences between the control group and the superimposed preeclampsia (SPE) group for rs11114256 in allele frequency distribution (P = 0.017) and genome frequency distribution in the dominant model (P = 0.014), and for rs2694657 genotype distribution frequency in the recessive model (P = 0.018). In the association analysis using haplotypes, there was a significant difference for G-A-A-G (rs7296839-rs11114256-rs2596793-rs2694657). In an analysis of haplotype-based case-control study, there was a significant difference for G-A-A-G between the control group (0.00%) and the HDP group (2.46%) (P = 0.038). Furthermore, the G-T-A-G haplotype was significantly higher in SPE group than in control group (P = 0.011). : The implication is that the gene may be a disease-susceptibility gene for SPE.
妊娠高血压疾病（HDP）被认为是一种多因素遗传病。肌球蛋白轻链磷酸化参与血管平滑肌收缩和舒张的调节，从而有助于维持血压，它与HDP有关。产生MYPT1蛋白的基因的官方符号是 基因。因此，我们研究了 基因与HDP相关的可能性。：研究对象为194例患有HDP的孕妇以及从接受检查的女性中选取的262例孕妇作为对照组。从 基因区域中选择了四个单核苷酸变异（SNV，rs7296839、rs11114256、rs2596793和rs2694657）。HDP组根据疾病类型进行划分，每组与对照组进行比较分析。：在使用 基因的关联分析中，rs11114256在等位基因频率分布（P = 0.017）和显性模型中的基因组频率分布（P = 0.014）方面，对照组与叠加性先兆子痫（SPE）组之间存在显著差异，在隐性模型中rs2694657基因型分布频率方面也存在显著差异（P = 0.018）。在使用单倍型的关联分析中，G-A-A-G（rs7296839-rs11114256-rs2596793-rs2694657）存在显著差异。在基于单倍型的病例对照研究分析中，对照组（0.00%）和HDP组（2.46%）之间的G-A-A-G存在显著差异（P = 0.038）。此外，SPE组中G-T-A-G单倍型显著高于对照组（P = 0.011）。：这意味着 基因可能是SPE的疾病易感基因。
