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中国妊娠女性中 KCNQ1 rs231840 多态性与子痫前期的新关联:病例对照候选基因研究。

Novel associations between KCNQ1 rs231840 polymorphism and preeclampsia in Chinese gestational women: A case-control candidate genetic study.

机构信息

Department of Gynecology and Obstetrics Center, the First Hospital of Jilin University, Jilin, China.

Department of Obstetrics, Maternal and Child Health Hospital of Ningxia Hui Autonomous Region, Yinchuan, China.

出版信息

Medicine (Baltimore). 2024 Oct 11;103(41):e39778. doi: 10.1097/MD.0000000000039778.

DOI:10.1097/MD.0000000000039778
PMID:39465874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11479463/
Abstract

Preeclampsia is a complex disorder with genetic and environmental interactions. In this study, we analyzed the associations of KCNQ1gene polymorphisms with preeclampsia in Chinese pregnant women. The 3 candidate single-nucleotide polymorphisms rs231840, rs2237892, and rs2237895 were genotyped in this case-control study; clinical and biochemical data were included and SNPs were gathered from 248 individuals with preeclampsia and 237 controls. The TT genotype rs231840 increased the risk of preeclampsia (OR: 1.633; 95% CI: 1.027-2.597) and was associated with higher blood glucose levels. The haplotype TCA containing the allele of rs231840 (T), rs2237892 (C), and rs2237895 (A) was highly protective against preeclampsia and associated with the levels of blood glucose in preeclamptic patients. A novel function was found for the haplotype CCA in SNPs rs231840 (C), rs2237892 (C), and rs2237895 (A); it might be a protective combination against preeclampsia. The KCNQ1 (TT) genotype seems to be associated with preeclampsia and might affect the regulation of blood glucose in Chinese pregnant women.

摘要

子痫前期是一种具有遗传和环境相互作用的复杂疾病。在这项研究中,我们分析了 KCNQ1 基因多态性与中国孕妇子痫前期的关联。在这项病例对照研究中,我们对 3 个候选单核苷酸多态性 rs231840、rs2237892 和 rs2237895 进行了基因分型;纳入了临床和生化数据,并从 248 例子痫前期患者和 237 例对照中收集了 SNPs。rs231840 的 TT 基因型增加了子痫前期的风险(OR:1.633;95%CI:1.027-2.597),并与较高的血糖水平相关。包含 rs231840(T)、rs2237892(C)和 rs2237895(A)等位基因的 TCA 单倍型高度保护子痫前期患者,并与子痫前期患者的血糖水平相关。rs231840(C)、rs2237892(C)和 rs2237895(A)中发现了 CCA 单倍型的新功能;它可能是子痫前期的一种保护组合。KCNQ1(TT)基因型似乎与子痫前期相关,并可能影响中国孕妇的血糖调节。

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