Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia

Huang, Xuejue; Li, Zuodong; Liu, Jun; Wang, Dapeng; Zhang, Yujing

doi:10.1186/s12881-019-0887-7

Cited by 4 publications

(2 citation statements)

References 32 publications

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“…The SNV rs720012 in DGCR8 has been previously associated with non-muscle-invasive bladder cancer, tuberculosis susceptibility, and increased risk of pre-eclampsia (Ke et al, 2013;Cheng et al, 2018;Huang et al, 2019b). The rs197388 variant in GEMIN3 has been associated with primary open-angle glaucoma in the Polish population (Molasy et al, 2018), idiopathic azoospermia in a Turkish population (Ozlem et al, 2017), and increased risk of oropharyngeal squamous cell carcinoma (Chen et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

et al. 2023

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Background: MicroRNAs (miRNAs) are important regulators in a variety of biological processes, and their dysregulation is associated with multiple human diseases. Single nucleotide variants (SNVs) in genes involved in the processing of microRNAs may alter miRNA regulation and could present high allele heterogeneity in populations from different ethnic groups. Thus, the aim of this study was to genotype 15 SNVs in eight genes involved in the miRNA processing pathway in Mexican individuals and compare their frequencies across 21 populations from five continental groups.Methods: Genomic DNA was obtained from 399 healthy Mexican individuals. SNVs in AGO2 (rs2293939 and rs4961280), DGCR8 (rs720012), DICER (rs3742330 and rs13078), DROSHA (rs10719 and rs6877842), GEMIN3 (rs197388 and rs197414), GEMIN4 (rs7813, rs2740349, and rs4968104), TNRC6B (rs9611280), and XP05 (rs11077 and rs34324334) were genotyped using TaqMan probes. The minor allele frequency of each SNV was compared to those reported in the 1,000 Genomes database using chi-squared. Sankey plot was created in the SankeyMATIC package to visualize the frequency range of each variant in the different countries analyzed.Results: In Mexican individuals, all 15 SNVs were found in Hardy-Weinberg equilibrium, with frequencies ranging from 0.04 to 0.45. The SNVs rs4961280, rs2740349, rs34324334, and rs720012 in Mexican individuals had the highest minor allele frequencies worldwide, whereas the minor allele frequencies of rs197388, rs10719, rs197414, and rs1107 were among the lowest in Mexican individuals. The variants had high allele heterogeneity among the sub-continental populations, ranging from monomorphic, as was the case for rs9611280 and rs34324334 in African groups, to >0.50, which was the case for variants rs11077 and rs10719 in most of the populations. Importantly, the variants rs197388, rs720012, and rs197414 had FST values > 0.18, indicating a directional selective process. Finally, the SNVs rs13078 and rs10719 significantly correlated with both latitude and longitude.Conclusion: These data indicate the presence of high allelic heterogeneity in the worldwide distribution of the frequency of SNVs located in components of the miRNA processing pathway, which could modify the genetic susceptibility associated with human diseases in populations with different ancestry.

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Section: Discussionmentioning

confidence: 99%

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

et al. 2023

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“… 3 Preeclampsia occurs due to shallow invasion of trophoblast cells, which results in abnormal placental vascular remodeling, placental hypoxia, and ischemia, leading to vascular endothelial cell damage. 4 The invasion of trophoblast cells may be caused by altered gene expressions associated with tumor invasion, which may occur during placentation. Despite the existence of a broad spectrum of research, the pathophysiology of this disorder is still not fully understood.…”

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confidence: 99%

Association between preeclampsia and prostasin polymorphism in Pakistani females

Ejaz

Ali

Azim

et al. 2020

SMJ

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Objectives: To investigate the relationship between a prostasin gene variations and the development of preeclampsia in a Pakistani female population. Methods: This was a case-control study carried out at University of Karachi, Karachi, Pakistan between May 2018 and 2019. A single nucleotide polymorphism (SNP) at rs12597511 locus was examined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses in 76 preeclamptic and 74 normotensive expecting mothers. Results: We observed significantly increased risk of preeclampsia associated with the CC genotype of rs12597511 polymorphism as compared to TT ( p <0.001, OR=8.08, 95% CI:1.28-31.19) and TT/TC ( p <0.001, OR=14.66 and 95% CI: 3.31-65.07) genotypes carriers. Calculation of the allelic distribution revealed a higher frequency of the T allele (82%) among controls; however, the C allele was more prevalent in the preeclamptic group (36%) significantly. Conclusion: The significantly higher C allele frequency in the prostasin gene at the rs12597511 locus in the preeclamptic group indicates that the distribution of the C allele of the prostasin gene is a potential risk factor contributing to the development of preeclampsia.

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Preeclampsia: Linking Placental Ischemia with Maternal Endothelial and Vascular Dysfunction

Bakrania

Spradley

Drummond

et al. 2020

Comprehensive Physiology

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Preeclampsia (PE), a hypertensive disorder, occurs in 3% to 8% of pregnancies in the United States and affects over 200,000 women and newborns per year. The United States has seen a 25% increase in the incidence of PE, largely owing to increases in risk factors, including obesity and cardiovascular disease. Although the etiology of PE is not clear, it is believed that impaired spiral artery remodeling of the placenta reduces perfusion, leading to placental ischemia. Subsequently, the ischemic placenta releases antiangiogenic and pro-inflammatory factors, such as cytokines, reactive oxygen species, and the angiotensin II type 1 receptor autoantibody (AT1-AA), among others, into the maternal circulation. These factors cause widespread endothelial activation, upregulation of the endothelin system, and vasoconstriction. In turn, these changes affect the function of multiple organ systems including the kidneys, brain, liver, and heart. Despite extensive research into the pathophysiology of PE, the only treatment option remains early delivery of the baby and importantly, the placenta. While premature delivery is effective in ameliorating immediate risk to the mother, mounting evidence suggests that PE increases risk of cardiovascular disease later in life for both mother and baby. Notably, these women are at increased risk of hypertension, heart disease, and stroke, while offspring are at risk of obesity, hypertension, and neurological disease, among other complications, later in life. This article aims to discuss the current understanding of the diagnosis and pathophysiology of PE, as well as associated organ damage, maternal and fetal outcomes, and potential therapeutic avenues.

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Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia

Cited by 4 publications

References 32 publications

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

Association between preeclampsia and prostasin polymorphism in Pakistani females

Preeclampsia: Linking Placental Ischemia with Maternal Endothelial and Vascular Dysfunction

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