Abstract：
OBJECTIVE: We aimed to explore the associations of the ATP2B1 gene polymorphisms with eclampsia.
METHODS: A total of 150 patients with eclampsia (disease group) and 150 healthy pregnant women (control group) were taken as the subjects of study. The peripheral blood of the two groups of subjects was collected to extract deoxyribonucleic acids (DNAs), and the ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms were detected by sequencing the Polymerase Chain Reaction (PCR) products, and then, analyzed combined with gene expression determined via Reverse Transcription-quantitative Polymerase Chain Reaction (RT-qPCR) and clinical indicators, such as 24-h urine protein, platelets, and LDH.
RESULTS: A difference was observed in the allele distribution of ATP2B1 gene rs71454161 (p=0.000) and rs73196661 (p=0.011) between the disease group and control group. Disease group exhibited higher frequencies of allele G of rs71454161 and allele T of rs73196661 than control group. Besides, there was a difference in the genotype distribution of ATP2B1 gene rs71454161 (p=0.000), rs73196661 (p=0.000) and rs73196675 (p=0.000) between disease group and control group. Disease group exhibited higher frequencies of genotype GG of rs71454161, genotype TT of rs73196661 and genotype CG of rs73196675 than control group. Moreover, a difference in the distributions of ATP2B1 gene rs71454161 (p=0.000) and rs73196661 (p=0.014) was found between the two groups in the dominant model. Disease group exhibited lower frequencies of AA+AG of rs71454161 and CC+CT of rs73196661 than control group in the dominant model. Differences in the distributions of haplotypes ACC (p=0.000), ATC (p=0.047) and GTC (p=0.000) of ATP2B1 gene rs71454161, rs73196661 and rs73196675 were observed between disease group and control group. Furthermore, a high degree of linkage disequilibrium was detected between rs71454161 and rs73196661 (D\'=0.329). The ATP2B1 gene rs73196675 polymorphism was evidently correlated with the gene expression of ATP2B1 (p<0.05), and the patients with genotype GG had a lower expression level of ATP2B1. The ATP2B1 gene rs71454161 was evidently correlated with the 24-h urinary protein in eclampsia patients (p=0.021), and the patients with genotype AG had a higher level of 24-h urinary proteins. The rs73196661 polymorphism was significantly correlated with LDH (p=0.000), and the patients with genotype CC had a higher level of LDH.
CONCLUSIONS: The ATP2B1 gene polymorphism was significantly correlated with the occurrence and progression of eclampsia.
METHODS: A total of 150 patients with eclampsia (disease group) and 150 healthy pregnant women (control group) were taken as the subjects of study. The peripheral blood of the two groups of subjects was collected to extract deoxyribonucleic acids (DNAs), and the ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms were detected by sequencing the Polymerase Chain Reaction (PCR) products, and then, analyzed combined with gene expression determined via Reverse Transcription-quantitative Polymerase Chain Reaction (RT-qPCR) and clinical indicators, such as 24-h urine protein, platelets, and LDH.
RESULTS: A difference was observed in the allele distribution of ATP2B1 gene rs71454161 (p=0.000) and rs73196661 (p=0.011) between the disease group and control group. Disease group exhibited higher frequencies of allele G of rs71454161 and allele T of rs73196661 than control group. Besides, there was a difference in the genotype distribution of ATP2B1 gene rs71454161 (p=0.000), rs73196661 (p=0.000) and rs73196675 (p=0.000) between disease group and control group. Disease group exhibited higher frequencies of genotype GG of rs71454161, genotype TT of rs73196661 and genotype CG of rs73196675 than control group. Moreover, a difference in the distributions of ATP2B1 gene rs71454161 (p=0.000) and rs73196661 (p=0.014) was found between the two groups in the dominant model. Disease group exhibited lower frequencies of AA+AG of rs71454161 and CC+CT of rs73196661 than control group in the dominant model. Differences in the distributions of haplotypes ACC (p=0.000), ATC (p=0.047) and GTC (p=0.000) of ATP2B1 gene rs71454161, rs73196661 and rs73196675 were observed between disease group and control group. Furthermore, a high degree of linkage disequilibrium was detected between rs71454161 and rs73196661 (D\'=0.329). The ATP2B1 gene rs73196675 polymorphism was evidently correlated with the gene expression of ATP2B1 (p<0.05), and the patients with genotype GG had a lower expression level of ATP2B1. The ATP2B1 gene rs71454161 was evidently correlated with the 24-h urinary protein in eclampsia patients (p=0.021), and the patients with genotype AG had a higher level of 24-h urinary proteins. The rs73196661 polymorphism was significantly correlated with LDH (p=0.000), and the patients with genotype CC had a higher level of LDH.
CONCLUSIONS: The ATP2B1 gene polymorphism was significantly correlated with the occurrence and progression of eclampsia.
摘要：
目的：我们旨在探讨ATP2B1基因多态性与子痫的关系。
方法：以150例子痫患者（疾病组）和150例健康孕妇（对照组）为研究对象。采集两组受试者的外周血提取脱氧核糖核酸(DNA),和ATP2B1基因rs71454161，rs73196661和rs73196675多态性通过测序聚合酶链反应（PCR）产物进行检测，然后,结合逆转录-定量聚合酶链反应(RT-qPCR)测定的基因表达和临床指标进行分析,如24小时尿蛋白，血小板,LDH。
结果：ATP2B1基因rs71454161（p=0.000）和rs73196661（p=0.011）的等位基因分布在疾病组和对照组之间观察到差异。疾病组rs71454161等位基因G和rs73196661等位基因T的频率高于对照组。此外,ATP2B1基因rs71454161的基因型分布存在差异(p=0.000),疾病组与对照组之间的rs73196661(p=0.000)和rs73196675(p=0.000)。疾病组rs71454161基因型GG，rs73196661基因型TT和rs73196675基因型CG的频率高于对照组。此外，在显性模型中，两组之间ATP2B1基因rs71454161（p=0.000）和rs73196661（p=0.014）的分布存在差异。在显性模型中，疾病组rs71454161的AA+AG和rs73196661的CC+CT频率低于对照组。单倍型ACC的分布差异(p=0.000)，在疾病组和对照组之间观察到ATP2B1基因rs71454161，rs73196661和rs73196675的ATC（p=0.047）和GTC（p=0.000）。此外，在rs71454161和rs73196661之间检测到高度的连锁不平衡（D\'=0.329）。ATP2B1基因rs73196675多态性与ATP2B1基因表达呈显著相关(p<0.05),基因型GG患者ATP2B1表达水平较低。ATP2B1基因rs71454161与子痫患者24h尿蛋白呈明显相关(p=0.021),基因型AG的患者24小时尿蛋白水平较高。rs73196661多态性与LDH显著相关(p=0.000),基因型CC患者LDH水平较高。
结论：ATP2B1基因多态性与子痫的发生和进展显著相关。
方法：以150例子痫患者（疾病组）和150例健康孕妇（对照组）为研究对象。采集两组受试者的外周血提取脱氧核糖核酸(DNA),和ATP2B1基因rs71454161，rs73196661和rs73196675多态性通过测序聚合酶链反应（PCR）产物进行检测，然后,结合逆转录-定量聚合酶链反应(RT-qPCR)测定的基因表达和临床指标进行分析,如24小时尿蛋白，血小板,LDH。
结果：ATP2B1基因rs71454161（p=0.000）和rs73196661（p=0.011）的等位基因分布在疾病组和对照组之间观察到差异。疾病组rs71454161等位基因G和rs73196661等位基因T的频率高于对照组。此外,ATP2B1基因rs71454161的基因型分布存在差异(p=0.000),疾病组与对照组之间的rs73196661(p=0.000)和rs73196675(p=0.000)。疾病组rs71454161基因型GG，rs73196661基因型TT和rs73196675基因型CG的频率高于对照组。此外，在显性模型中，两组之间ATP2B1基因rs71454161（p=0.000）和rs73196661（p=0.014）的分布存在差异。在显性模型中，疾病组rs71454161的AA+AG和rs73196661的CC+CT频率低于对照组。单倍型ACC的分布差异(p=0.000)，在疾病组和对照组之间观察到ATP2B1基因rs71454161，rs73196661和rs73196675的ATC（p=0.047）和GTC（p=0.000）。此外，在rs71454161和rs73196661之间检测到高度的连锁不平衡（D\'=0.329）。ATP2B1基因rs73196675多态性与ATP2B1基因表达呈显著相关(p<0.05),基因型GG患者ATP2B1表达水平较低。ATP2B1基因rs71454161与子痫患者24h尿蛋白呈明显相关(p=0.021),基因型AG的患者24小时尿蛋白水平较高。rs73196661多态性与LDH显著相关(p=0.000),基因型CC患者LDH水平较高。
结论：ATP2B1基因多态性与子痫的发生和进展显著相关。
