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 Res. 2018 Jan;41(1):39-44. doi: 10.1038/hr.2017.84. Epub 2017 Nov 2.
Hypertensive disorders of pregnancy (HDP) is a common disease and is believed to be a multifactorial genetic disease. Stromal interaction molecule 1 (STIM1) was previously reported to regulate the concentration of Ca and vascular contraction. The aim of the present study was to assess the association between HDP and single-nucleotide polymorphisms (SNPs) or haplotypes in the human STIM1 gene via case-control studies. On the basis of a database on the National Center of Biotechnology Information website, we selected five SNPs in the human STIM1 gene and performed an association study with 139 HDP patients and 162 age-matched non-HDP subjects. There were significant differences between the HDP and control groups in the genotypes (P=0.041) and recessive models (P=0.045) for rs7945554, and between the gestational hypertension and control groups in the dominant models (P=0.015) and alleles (P=0.043) for rs10458894. The haplotypes of A-T-G-G, A-C-A-G, A-T-A-G, G-T-G-C, A-T-G-C and G-C-A-C (rs7945554-rs10458894-rs7929653-rs2923956) were significantly different from those of the control group. In the logistic regression analysis, the AA genotype of rs7945554 was significantly more predominant in the HDP group than in the control group. We found HDP-sensitive SNPs and haplotypes, and the STIM1 gene was identified as a possible susceptibility gene for HDP. By providing guidance to patients with genetic factors for HDP, we may be able to help them avoid environmental factors that could increase the risk of HDP before or during pregnancy and thus prevent or delay the onset of the disease.
妊娠期高血压疾病（HDP）是一种常见疾病，被认为是一种多因素遗传疾病。基质相互作用分子 1（STIM1）先前被报道可调节 Ca 浓度和血管收缩。本研究旨在通过病例对照研究评估人类 STIM1 基因中的单核苷酸多态性（SNP）或单倍型与 HDP 之间的关联。基于美国国立生物技术信息中心网站上的数据库，我们选择了人类 STIM1 基因中的 5 个 SNP，并对 139 例 HDP 患者和 162 例年龄匹配的非 HDP 受试者进行了关联研究。在 rs7945554 中，HDP 组和对照组在基因型（P=0.041）和隐性模型（P=0.045）中存在显著差异，在 rs10458894 中，妊娠期高血压组和对照组在显性模型（P=0.015）和等位基因（P=0.043）中存在显著差异。A-T-G-G、A-C-A-G、A-T-A-G、G-T-G-C、A-T-G-C 和 G-C-A-C（rs7945554-rs10458894-rs7929653-rs2923956）的单体型与对照组明显不同。在逻辑回归分析中，rs7945554 的 AA 基因型在 HDP 组中明显比对照组更为常见。我们发现了 HDP 敏感 SNP 和单体型，STIM1 基因被确定为 HDP 的一个可能的易感基因。通过为具有 HDP 遗传因素的患者提供指导，我们可能能够帮助他们在怀孕前或怀孕期间避免增加 HDP 风险的环境因素，从而预防或延迟疾病的发生。
