Department of Clinical Biochemistry, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Human Genetics Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
Biochem Genet. 2024 Jun;62(3):2134-2147. doi: 10.1007/s10528-023-10538-y. Epub 2023 Oct 21.
Preeclampsia (PE) is a hypertensive disorder that affects pregnancy, mother, and fetus. Early diagnosis of PE remains a challenge. This study aimed to investigate the association between survivin two (rs9904341 and rs17878467) SNPs and PE risk in healthy pregnant women compared to women with preeclampsia. A sample of 166 healthy pregnant women and 160 cases with preeclampsia was included and genotyped for rs9904341 with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and rs17878467 with amplification-refractory mutation system (ARMS) PCR. The genotypic and allelic assessments were performed using various statistical approaches. The frequency of rs9904341 and rs17878467 polymorphisms was not significantly different between PE and healthy pregnant women. rs9904341: codominant (p = 0.5), dominant (p = 0.24), recessive (p = 0.61), over-dominant model (p = 0.38), and log additive (p = 0.25). rs17878467: codominant (p = 0.41), dominant (p = 0.23), recessive (p = 0.4), over-dominant model (p = 0.42), and log additive (p = 0.24). The frequency of survivin rs9904341 CG and CC genotypes was higher in severe PE women compared to controls and this polymorphism was associated with PE severity only in the dominant model (OR = 1.84, CI 1.04-3.26, P = 0.034). There was a significant association between survivin rs9904341 polymorphism and PE severity. No relationship was found between survivin rs9904341 and rs17878467 polymorphisms and PE onset. The allelic and genotypic frequencies of survivin rs9904341 and rs17878467 polymorphisms are not significantly different between the preeclampsia and control groups in all genetic models. Haplotype analysis showed lower frequency G T haplotype in PE woman and this haplotype was associated with lower risk of PE (OR = 0.54, CI 0.33-0.91, P = 0.02).
子痫前期（PE）是一种影响妊娠、母亲和胎儿的高血压疾病。早期诊断 PE 仍然是一个挑战。本研究旨在探讨 survivin 2 号（rs9904341 和 rs17878467）SNP 与健康孕妇和子痫前期患者之间的关联。研究纳入了 166 名健康孕妇和 160 名子痫前期患者，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对 rs9904341 进行基因分型，采用扩增受阻突变系统（ARMS）PCR 对 rs17878467 进行基因分型。采用各种统计方法进行基因分型和等位基因评估。PE 和健康孕妇之间 rs9904341 和 rs17878467 多态性的频率无显著差异。rs9904341：共显性（p=0.5），显性（p=0.24），隐性（p=0.61），超显性模型（p=0.38），对数加性（p=0.25）。rs17878467：共显性（p=0.41），显性（p=0.23），隐性（p=0.4），超显性模型（p=0.42），对数加性（p=0.24）。与对照组相比，严重子痫前期妇女 survivin rs9904341 CG 和 CC 基因型的频率更高，该多态性仅在显性模型中与 PE 严重程度相关（OR=1.84，CI 1.04-3.26，P=0.034）。survivin rs9904341 多态性与 PE 严重程度有显著相关性。survivin rs9904341 和 rs17878467 多态性与 PE 发病之间无相关性。在所有遗传模型中，子痫前期组和对照组之间 survivin rs9904341 和 rs17878467 多态性的等位基因和基因型频率无显著差异。单体型分析显示，PE 女性中 G-T 单体型频率较低，该单体型与 PE 风险降低相关（OR=0.54，CI 0.33-0.91，P=0.02）。
