孕期子痫前期的基因变异：一项基于医院的病例对照研究。

Genetic Variants in Preeclampsia During Pregnancy: A Hospital-Based Case-Control Study.

作者信息

Slobodchikova Tatyana, Tayzhanova Dana, Amirbekova Zhanna, Vazenmiller Dmitriy, Mustafin Ramil, Izmailovich Marina

机构信息

Department of Obstetrics, Gynecology and Perinatology, Karaganda Medical University, Karaganda 100000, Kazakhstan.

Department of Internal Diseases, Karaganda Medical University, Karaganda 100000, Kazakhstan.

出版信息

J Clin Med. 2025 May 30;14(11):3850. doi: 10.3390/jcm14113850.

DOI:10.3390/jcm14113850

PMID:40507612

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12156003/

Abstract

Preeclampsia is a multifactorial disorder with a possible genetic component. While numerous studies have explored genetic susceptibility, validation remains inconsistent. The aim was to assess the association between hypertension-related polymorphisms and preeclampsia risk. : A case-control study was conducted in Karaganda, Kazakhstan (n = 95). Sixty SNPs were genotyped using the QuantStudio™ 12K Flex system. Genotype-phenotype associations were evaluated using five inheritance models and statistical analysis in R. : Significant associations were found for rs2516839 (C/T: OR = 5.28; 95% CI: 1.53-18.15), rs17672135 (T/T: OR = 3.48; CI: 1.05-11.5), and rs10757278 (A/G: OR = 0.3; CI: 0.11-0.83). However, wide confidence intervals suggest potential limitations in sample size and generalizability. : While these polymorphisms show promise as genetic markers of preeclampsia risk, their clinical application requires further validation in larger, multi-ethnic cohorts.

摘要

子痫前期是一种具有可能遗传成分的多因素疾病。尽管众多研究已探讨了遗传易感性，但验证结果仍不一致。目的是评估高血压相关多态性与子痫前期风险之间的关联。：在哈萨克斯坦卡拉干达进行了一项病例对照研究（n = 95）。使用QuantStudio™ 12K Flex系统对60个单核苷酸多态性进行基因分型。使用五种遗传模型和R中的统计分析评估基因型与表型的关联。：发现rs2516839（C/T：比值比 = 5.28；95%置信区间：1.53 - 18.15）、rs17672135（T/T：比值比 = 3.48；置信区间：1.05 - 11.5）和rs10757278（A/G：比值比 = 0.3；置信区间：0.11 - 0.83）存在显著关联。然而，较宽的置信区间表明样本量和可推广性可能存在局限性。：虽然这些多态性有望成为子痫前期风险的遗传标志物，但其临床应用需要在更大规模的多民族队列中进一步验证。