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哈萨克斯坦先兆子痫哈萨克族女性叶酸代谢基因的多态性:一项描述性研究。

Polymorphism of Folate Metabolism Genes among Ethnic Kazakh Women with Preeclampsia in Kazakhstan: A Descriptive Study.

作者信息

Kaldygulova Lyazzat, Yerdessov Sauran, Ukybassova Talshyn, Kim Yevgeniy, Ayaganov Dinmukhamed, Gaiday Andrey

机构信息

Department of Obstetrics and Gynecology #2, West-Kazakhstan Marat Ospanov Medical University, Aktobe 030012, Kazakhstan.

Department of Medicine, School of Medicine, Nazarbayev University, Astana 010000, Kazakhstan.

出版信息

Biology (Basel). 2024 Aug 23;13(9):648. doi: 10.3390/biology13090648.

DOI:10.3390/biology13090648
PMID:39336076
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11428523/
Abstract

INTRODUCTION

Preeclampsia is a severe multifactorial complication of pregnancy. Studies found associations between folate metabolism genes' polymorphisms and preeclampsia. However, investigations in this field are limited among Asian populations. Thus, the study's aim was to evaluate the prevalence of methionine synthase (), methionine synthase reductase (, and methylenetetrahydrofolate reductase () genes' polymorphisms among ethnic Kazakh women with preeclampsia.

METHODS

This was a retrospective study involving 4246 patients' data for the period of 2018-2022. Identification of , , and genes' polymorphism was performed via PR-PCR. Peripheral blood samples were obtained for the analyses. In total, 4246 patients' data of Kazakh ethnicity with preeclampsia at >20 weeks gestational age who had undergone an investigation to identify polymorphisms of the folate metabolism pathway genes for the period of 5 years were included in this study.

RESULTS

The most common and prevalent mutation was the polymorphism: 24.5% of all tested patients with preeclampsia had the polymorphism. It was highest among the 35-39 age group participants. The second most prevalent was the polymorphism: 9% of women with preeclampsia had the mutation. It was highest among women aged 30-34. There was a rare association of the mutation with preeclampsia among the study participants.

CONCLUSIONS

The identified levels of and polymorphisms among the study participants suggest the importance of evaluating and polymorphisms in women with preeclampsia. The role of the polymorphism in the development of preeclampsia needs to be further investigated.

摘要

引言

子痫前期是一种严重的妊娠多因素并发症。研究发现叶酸代谢基因多态性与子痫前期之间存在关联。然而,该领域在亚洲人群中的研究有限。因此,本研究的目的是评估哈萨克族子痫前期妇女中甲硫氨酸合成酶()、甲硫氨酸合成酶还原酶()和亚甲基四氢叶酸还原酶()基因多态性的发生率。

方法

这是一项回顾性研究,涉及2018年至2022年期间4246例患者的数据。通过PR-PCR进行、和基因多态性的鉴定。采集外周血样本进行分析。本研究纳入了2018年至2022年期间共4246例孕周>20周的哈萨克族子痫前期患者的数据,这些患者均接受了叶酸代谢途径基因多态性的检测。

结果

最常见和普遍的突变是多态性:所有接受检测的子痫前期患者中有24.5%具有多态性。在35 - 39岁年龄组参与者中发生率最高。第二常见的是多态性:9%的子痫前期女性具有突变。在30 - 34岁女性中发生率最高。在研究参与者中,突变与子痫前期的关联较为罕见。

结论

研究参与者中鉴定出的和多态性水平表明,评估子痫前期女性的和多态性具有重要意义。多态性在子痫前期发生发展中的作用有待进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/41b5597ea61f/biology-13-00648-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/d48b74fc3024/biology-13-00648-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/6aedbee05217/biology-13-00648-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/41b5597ea61f/biology-13-00648-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/d48b74fc3024/biology-13-00648-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/6aedbee05217/biology-13-00648-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17dd/11428523/41b5597ea61f/biology-13-00648-g003.jpg

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