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中国女性中Foxp3和TGF-β1基因多态性与子痫前期风险的关联

Association of Foxp3 and TGF-β1 Polymorphisms with Pre-Eclampsia Risk in Chinese Women.

作者信息

Chen Jiying, Tan Wenqing, Wang Dengchuan, Zhao Lijian, Gao Haijie, Zhang Nana, Wang Chenhong

机构信息

1 Department of Obstetrics and Gynecology, Shenzhen Longhua District Central Hospital, Shenzhen, Guangdong, P.R. China.

2 Department of Obstetrics and Gynecology, Shenzhen Hospital of Southern Medical University, Shenzhen, China.

出版信息

Genet Test Mol Biomarkers. 2019 Mar;23(3):180-187. doi: 10.1089/gtmb.2018.0279.

Abstract

PURPOSE

The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in the genes that encode forkhead box p3 (Foxp3) (rs3761549 C>T, rs2280883T>C, rs2232365 A>G and rs3761548 C>A) and transforming growth factor (TGF)-β1 (rs11466359 C>T, rs11466345 A>G and rs1800469 T>C) are associated with pre-eclampsia (PE) risk in Chinese women.

MATERIALS AND METHODS

SNPs were identified by polymerase chain reaction and ligase detection reaction. Allelic variant and genotype frequencies for Foxp3 and TGF-β1 were compared between PE women (n = 203) and healthy pregnant (HP) controls (n = 243).

RESULTS

The TGF-β1 rs1800469 TT genotype was found more frequently in PE patients than in HP controls [CC vs. CT+TT: odds ratio (OR) = 1.71; 95% confidence interval (CI): 1.04-2.81; p = 0.033], indicating that the T allele of rs1800469 confers a risk for PE [OR = 1.46; 95% CI: 1.12-1.92; p = 0.006]. The Foxp3 rs2232365 A allele was associated with severe PE specifically [OR = 1.70; 95% CI: 1.12-2.58; p = 0.01], compared with mild PE. There were no haplotype associations with PE.

CONCLUSIONS

These findings indicate that allelic variants of TGF-β1 rs1800469 T influence PE risk in Chinese women. Pregnant Han Chinese women carrying the rs1800469 TT genotype were at increased risk of PE.

摘要

目的

本研究旨在调查编码叉头框蛋白p3(Foxp3)的基因(rs3761549 C>T、rs2280883T>C、rs2232365 A>G和rs3761548 C>A)以及转化生长因子(TGF)-β1的基因(rs11466359 C>T、rs11466345 A>G和rs1800469 T>C)中的单核苷酸多态性(SNP)是否与中国女性的子痫前期(PE)风险相关。

材料与方法

通过聚合酶链反应和连接酶检测反应鉴定SNP。比较了子痫前期女性(n = 203)和健康孕妇(HP)对照组(n = 243)中Foxp3和TGF-β1的等位基因变异和基因型频率。

结果

与健康孕妇对照组相比,子痫前期患者中TGF-β1 rs1800469 TT基因型的出现频率更高[CC与CT+TT:比值比(OR)= 1.71;95%置信区间(CI):1.04 - 2.81;p = 0.033],表明rs1800469的T等位基因赋予了子痫前期风险[OR = 1.46;95% CI:1.12 - 1.92;p = 0.006]。与轻度子痫前期相比,Foxp3 rs2232365的A等位基因与重度子痫前期特异性相关[OR = 1.70;95% CI:1.12 - 2.58;p = 0.01]。没有单倍型与子痫前期相关。

结论

这些发现表明,TGF-β1 rs1800469 T的等位基因变异影响中国女性的子痫前期风险。携带rs1800469 TT基因型的汉族孕妇患子痫前期的风险增加。

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