Associative study of maternal genetic variations with preeclampsia in Russian population: SNP-SNP interactions and haplotypes association

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-08-02 DOI:10.1016/j.genrep.2024.102006

Oksana Yurievna Bordaeva , Ekaterina Grigorievna Derevyanchuk , Dema Alset , Maria Aleksandrovna Amelina , Tatiana Pavlovna Shkurat

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引用次数: 0

Abstract

Preeclampsia is a pregnancy-associated hypertensive pathology that affects maternal and fetal quality of life. It was linked to several environmental and genetic factors including genetic polymorphisms. This study aimed to study the association, SNP-SNP interactions and haplotypes associations of thrombophilia, folate cycle and hypertension maternal genetic variations with preeclampsia risk in Russian women from Rostov region. 53 pregnant women diagnosed with preeclampsia were compared with 3108 women with relatively healthy pregnancy. DNA was extracted from blood samples and real time allele specific PCR was used for genotyping. MDR analysis was used for SNP-SNP interactions study. According to our data, F5(G1691A) and ITGB3(T1565C) mutant homozygotes were associated with higher risk of preeclampsia. MTRR (A66G) mutant allele (G) was shown as significant preeclampsia risk factor. ADD1 (G1378T) showed significantly higher frequency of mutant allele (T) and mutant homozygote genotype (TT) in preeclampsia patients comparing to control group. MDR showed that this polymorphism has the higher entropy among targeted variations which was confirmed by binary haplotypes association study. We have also examined linkage disequilibrium showing two haploblocks in between the studied genetic variations included MTHFR (C677T) and MTHFR (A1298C) block and AGT (T704C) with AGT (C521T) block. Results suggest several genetic variations and haplotypes as perspective maternal marker for preeclampsia which will contribute to improve prognosis tools and accordingly treatment and prevention possibilities.

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俄罗斯人群中母体基因变异与子痫前期的关联研究：SNP-SNP 相互作用和单倍型关联

子痫前期是一种与妊娠相关的高血压病症，会影响母体和胎儿的生活质量。它与包括基因多态性在内的多种环境和遗传因素有关。本研究旨在研究罗斯托夫州俄罗斯妇女血栓性疾病、叶酸周期和高血压母体遗传变异与子痫前期风险的关联、SNP-SNP 相互作用和单倍型。53 名确诊为子痫前期的孕妇与 3108 名相对健康的孕妇进行了比较。从血液样本中提取 DNA，使用实时等位基因特异性 PCR 进行基因分型。MDR 分析用于 SNP-SNP 相互作用的研究。根据我们的数据，F5（G1691A）和 ITGB3（T1565C）突变同源染色体与较高的子痫前期风险有关。MTRR（A66G）突变等位基因（G）是重要的子痫前期风险因素。与对照组相比，ADD1（G1378T）突变等位基因（T）和突变同源基因型（TT）在子痫前期患者中的频率明显更高。MDR 显示，该多态性在目标变异中具有较高的熵，这一点在二元单倍型关联研究中得到了证实。我们还研究了连锁不平衡，结果显示所研究的遗传变异之间存在两个单倍群，包括 MTHFR (C677T) 和 MTHFR (A1298C) 群，以及 AGT (T704C) 和 AGT (C521T) 群。研究结果表明，一些基因变异和单倍型可作为子痫前期的母体标记，这将有助于改善预后工具，从而提高治疗和预防的可能性。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.