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NPHS1 和 ACNT4 基因多态性与子痫前期的关联。

The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia.

机构信息

Optics and Imaging Centre, Doris Duke Medical Research Institute, College of Health Sciences, University of KwaZulu-Natal, South Africa.

Third Department of Internal Medicine, University of Fukui Faculty of Medicine Sciences, Fukui, Japan.

出版信息

Eur J Obstet Gynecol Reprod Biol. 2021 Nov;266:9-14. doi: 10.1016/j.ejogrb.2021.09.006. Epub 2021 Sep 13.

Abstract

OBJECTIVE

The main objective of this study is to investigate the association of the NPHS1 gene polymorphisms (rs437168) and ACTN4 (rs3745895) in the pathogenesis of PE in women of African Ancestry.

MATERIALS AND METHODS

637 blood samples, normotensive pregnant (n = 280) and pre-eclampsia (n = 357) were included. The PE group was sub-divided into early onset pre-eclampsia (n = 187) and late onset pre-eclampsia (n = 170). rs74315346, rs869025495, rs121908415, rs3745895, and rs437168 were genotyped from isolated DNA using real time PCR.

RESULTS

The C allele of rs437168 (NPHS1) was significantly higher in PE compared to controls. [C vs T; p = 0.0323*] and [CC vs CT/TT; p = 0.0464*]. A comparison between the subtypes of PE and controls showed that the C allele was significantly higher in EOPE compared to controls [p = 0.0027], [CC vs CT/TT; p = 0.0111*], [CC/CT vs TT p = 0.0198*] and LOPE. [p = 0.0259*]. The other SNPs genotyped showed no signification associations with PE.

CONCLUSION

This study found that the C allele of rs437168 is significantly associated with the pathogenesis of early onset PE and may be accountable for renal injury, which is a risk factor for the development of EOPE in women of African Ancestry.

摘要

目的

本研究的主要目的是探讨非洲裔女性先兆子痫发病机制中 NPHS1 基因多态性(rs437168)和 ACTN4(rs3745895)的关联。

材料和方法

纳入 637 份血液样本,其中正常妊娠孕妇 280 例(n=280),先兆子痫患者 357 例(n=357)。将先兆子痫组进一步分为早发型先兆子痫(n=187)和晚发型先兆子痫(n=170)。采用实时 PCR 法从分离的 DNA 中对 rs74315346、rs869025495、rs121908415、rs3745895 和 rs437168 进行基因分型。

结果

与对照组相比,rs437168(NPHS1)的 C 等位基因在先兆子痫患者中明显升高。[C 对 T;p=0.0323*]和[CC 对 CT/TT;p=0.0464*]。将先兆子痫各亚型与对照组比较显示,与对照组相比,EOPE 中 C 等位基因明显升高[p=0.0027],[CC 对 CT/TT;p=0.0111*],[CC/CT 对 TT p=0.0198*]和 LOPE。[p=0.0259*]。所检测的其他 SNP 与先兆子痫均无显著相关性。

结论

本研究发现,rs437168 的 C 等位基因与早发型先兆子痫的发病机制显著相关,可能导致肾脏损伤,这是非洲裔女性 EOPE 发展的危险因素。

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The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia.NPHS1 和 ACNT4 基因多态性与子痫前期的关联。
Eur J Obstet Gynecol Reprod Biol. 2021 Nov;266:9-14. doi: 10.1016/j.ejogrb.2021.09.006. Epub 2021 Sep 13.

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