GENETIC POLYMORPHISMS AND PRE-ECLAMPSIA

这个子项目是利用资源的许多研究子项目之一。 由NIH/NCRR资助的中心拨款提供。对子项目的主要支持 子项目的首席调查员可能是由其他来源提供的， 包括美国国立卫生研究院的其他来源。为子项目列出的总成本可能 表示该子项目使用的中心基础设施的估计数量， 不是由NCRR赠款提供给次级项目或次级项目工作人员的直接资金。 大约6%的孕妇合并高血压和蛋白尿，通常被称为先兆子痫。先兆子痫/子痫(P/E)是母婴发病率和死亡率的危险因素。虽然已经确定了一些风险因素，但市盈率的根本原因仍不清楚。 P/E在处于不利地位的社会经济人口中更为常见，发病率高达30%。在这个美洲印第安人(AI)社区中，P/E的发生率尚不清楚，但数据表明，它至少有5.4%。 在非印度人群中的研究已经将P/E的风险与影响凝血级联反应的基因变化(因子V Leiden)、纤溶酶原激活抑制物-1(PAI-1)异常、脂质异常(脂蛋白脂肪酶)和肾脏生理(盐皮质激素受体和肾素基因)联系在一起。PAI-1基因与胰岛素抵抗(在人工智能人群中常见)有关，可以用二甲双胍治疗，因此具有额外的重要性。 这项提议将在专门的吸墨纸上收集DNA样本，这些样本来自大约100例病例和200名匹配的对照组。可能具有功能意义的遗传多态将通过聚合酶链式反应、限制性内切酶消化和电泳胶上的产物分析进行基因分型。我们将研究该人群中危险基因与P/E的可能关联。将从产前诊所招募约560名额外参与者进行前瞻性分析。 关于这些基因多态的流行情况及其与P/E的可能相关性的信息是无法获得的，这不仅有助于更好地了解P/E的潜在病理生理学，而且还有助于公共卫生和临床使用，以判断基因筛查测试在这一特定人群中的作用，或许还包括其他相关的人工智能社区。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. About 6% of pregnancies are complicated by hypertension and proteinuria, commonly termed preeclampsia. Preeclampsia/eclampsia (P/E) is a risk factor for both maternal and neonatal morbidity and mortality. Although some risk factors have been identified, the underlying cause of P/E remains unknown. P/E is more common among women in disadvantaged socio-economic populations, with incidences of up to 30%. The incidence of P/E in this American Indian (AI) community is unknown, but data suggests that it is at least 5.4%. Research in non-Indian populations has related the risk of P/E to genetic changes influencing the blood clotting cascade (factor V Leiden), abnormalities of plasminogen activating inhibitor-1 (PAI-1)), lipid abnormalities (lipoprotein lipase) and renal physiology (mineralocorticoid receptor and renin genes). The PAI-1 gene is associated with insulin resistance (common in AI populations), amenable to treatment with metformin, and thus of additional importance. This proposal will collect DNA samples on specialized blotting paper, from about 100 cases and 200 matched controls. Genetic polymorphisms of possible functional significance will be genotyped using PCR amplification, restriction endonuclease digestion and analysis of products on electrophoresis gels. The possible association of risk genotypes in this population to P/E will be examined. Approximately 560 additional participants will be enrolled from prenatal clinics for a prospective analysis. Information about the prevalence of these genetic polymorphisms and their possible relevance to P/E is not otherwise available and is useful not only to better understand the underlying pathophysiology of P/E; but also for public health and clinical use in judging the utility of genetic screening tests in this particular population and perhaps other related AI communities.