Seremak-Mrozikiewicz Agnieszka, Barlik Magdalena, Perlik Michał, Kurzawińska Grazyna, Drews Krzysztof
Division of Perinatology and Women's Diseases Poznan University of Medical Sciences, Poland.
Ginekol Pol. 2011 May;82(5):363-70.
Recently much attention has been focused on endothelin-1 (ET-1) and endothelin-1 converting enzyme (ECE-1) gene polymorphisms and connected changes in ET-1 concentration. Additionally these processes have been shown to be possibly involved in preeclampsia susceptibility. The aim of this study was to evaluate the correlation between ET-1 (Lys198Asn) and ECE-1 (Thr341lle) gene polymorphisms and the risk of gestational hypertension and preeclampsia.
The study group consisted of 110 hypertensive (69 with gestational hypertension and 41 preeclamptic) pregnant women. The control group included 150 healthy pregnant women. The frequency of investigated polymorphisms was examined by polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP) assay
There were no statistically significant differences in genotype frequencies of ET-1 Lys198Asn and ECE-1 Thr341lle gene polymorphic variants between hypertensive pregnant women and the control group. There were also no remarkable differences between GH and PE groups when compared to the controls. However parallel presence of both Thr341lle ECE-1 and Lys198Asn ET-1 variant localisation showed a higher occurrence rate of ECE-1 CT/ET-1 GT heterozygotic genotypes in the control group (5,3%) than in the whole study or GH and PE groups (0.9%, 1.4% and 0.0% respectively p = ns). In preeclamptic women, the higher systolic blood pressure value was observed in GG Lys198Asn ET-1 genotype carriers (180.7 mmHg) than in patients with at least one mutated T allele (GT and TT) (167.3 mmHg, p = ns). The lowest blood pressure level was connected with the mutated TT Lys198Asn ET- 1 genotype presence.
Results of this study suggest lack of direct correlation of Lys198Asn ET-1 and Thr341lle ECE-1 gene polymorphisms with risk of gestational hypertension and preeclampsia in the studied population of Polish women. High prevalence of ECE-1 CT/ET-1 GT heterozygote genotypes of both Thr341lle ECE-1 and Lys198Asn ET-1 polymorphisms in healthy pregnant subjects compared to GH and PE groups suggests the protective role of mutated alleles in the development of PE. The carrier of mutated TT genotype of Lys198Asn ET-1 polymorphism is probably connected with lower systolic blood pressure level in preeclamptic women. Future studies are needed to establish the role of analysed polymorphisms in the etiology of gestational hypertension and preeclampsia.
最近,内皮素 -1(ET-1)和内皮素 -1转化酶(ECE-1)基因多态性以及ET-1浓度的相关变化备受关注。此外,这些过程已被证明可能与子痫前期易感性有关。本研究的目的是评估ET-1(Lys198Asn)和ECE-1(Thr341lle)基因多态性与妊娠期高血压和子痫前期风险之间的相关性。
研究组由110名高血压孕妇组成(69例妊娠期高血压患者和41例子痫前期患者)。对照组包括150名健康孕妇。通过聚合酶链反应和限制性片段长度多态性(PCR/RFLP)分析检测所研究多态性的频率。
高血压孕妇与对照组之间,ET-1 Lys198Asn和ECE-1 Thr341lle基因多态性变体的基因型频率无统计学显著差异。与对照组相比,妊娠期高血压组(GH)和子痫前期组(PE)之间也无显著差异。然而,Thr341lle ECE-1和Lys198Asn ET-1变体定位的同时存在显示,对照组中ECE-1 CT/ET-1 GT杂合基因型的发生率(5.3%)高于整个研究组或GH组和PE组(分别为0.9%、1.4%和0.0%,p =无显著性差异)。在子痫前期女性中,GG Lys198Asn ET-1基因型携带者的收缩压值(180.7 mmHg)高于至少有一个突变T等位基因(GT和TT)的患者(167.3 mmHg,p =无显著性差异)。最低血压水平与突变的TT Lys198Asn ET-1基因型存在有关。
本研究结果表明,在所研究的波兰女性人群中,Lys198Asn ET-1和Thr341lle ECE-1基因多态性与妊娠期高血压和子痫前期风险缺乏直接相关性。与GH组和PE组相比,健康孕妇中Thr341lle ECE-1和Lys198Asn ET-1多态性的ECE-1 CT/ET-1 GT杂合基因型的高患病率表明突变等位基因在PE发生发展中具有保护作用。Lys198Asn ET-1多态性的突变TT基因型携带者可能与子痫前期女性较低的收缩压水平有关。未来需要进一步研究以确定所分析的多态性在妊娠期高血压和子痫前期病因学中的作用。