Association of Aquaporin-3, Aquaporin-7, NOS3 and CYBA polymorphisms with hypertensive disorders in women

Silva, Inês Vieira da; Santos, Ana Carolina; Matos, Andreia; Silva, Alda Pereira da; Soveral, Graça; Rebelo, Irene; Bicho, Manuel

doi:10.1016/j.preghy.2021.02.008

Cited by 11 publications

(30 citation statements)

References 35 publications

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“…Caucasian population(36) and Portugal population (37). In addition, we demonstrated that the genetic variants of rs9932581 and rs1049255 in CYBA might not be associated with PE in Chinese population in our previous study (38).…”

Section: Declarations Ethics Approval and Consent To Participatementioning

confidence: 52%

CYBA C242T polymorphism is a risk factor for pre-eclampsia:a case control study

Zhang

Liu

Tan

et al. 2022

Preprint

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Background: Although the mechanisms responsible for pathogenesis of preeclampsia(PE) have not been entirely clarified, oxidative stress are thought to be its leading cause. As a major component responsible for ROS production during oxidative stresses, p22phox, encoded by CYBA, is one essential subunit of Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. The aim of this study is to investigate whether CYBA expression and its polymorphism were associated with PE. Methods: The expression of CYBA was analyzed in placenta of PE and control group, as well as in the HTR-8 / Svneo cells stimulated with CoCL2 and TNF-α, respectively. Then, the CYBA C242T polymorphism in 1184 patients with PE and 1421 healthy controls was genotyped by TaqMan probe, and the different distributions were confirmed by a case-control association study. Results: The expression of CYBA mRNA and protein in placenta of pregnant women with PE increased significantly. The expression of CYBA mRNA was also increased in HTR-8/Svneo cells, collected after 24 hours separately stimulated by cobalt chloride and TNF-α. In addition, there was no significant difference in the distribution of C242T locus genotype and allele frequency of CYBA between the case group and the control group (P>0.05). Conclusions: CYBA may play a role in the pathogenesis of oxidative stress in PE, in which it may function via cooperating with TNF-a related inflammatory pathway. Although there was no discrepant distribution of CYBA C242T polymorphism in Chinese population, it is necessary to perform the genetic studies on more CYBA SNPs for multiple regions to gain further insights into its pathogenesis.

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Section: Declarations Ethics Approval and Consent To Participatementioning

confidence: 52%

CYBA C242T polymorphism is a risk factor for pre-eclampsia:a case control study

Zhang

Liu

Tan

et al. 2022

Preprint

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“…EDN2 [178], SNX10 [179] and KCNN1 [180] were played a predominant role in progression of atrial fibrillation. EDNRB (endothelin receptor type B) [181], FGF10 [182], WNK3 [183], KNG1 [184], FCN3 [185], AQP3 [186], HPR (haptoglobin-related protein) [187], CTH (cystathionine gamma-lyase) [188], SPARCL1 [189], MAOA (monoamine oxidase A) [190], BMPR1B (bone morphogenetic protein receptor type 1B) [191], FGF7 [192], CALCRL (calcitonin receptor like receptor) [193], MARK3 [194], ADH1B [195], AMH (anti-Mullerian hormone) [196], RET (ret proto-oncogene) [197], IGF2 [198], SLC6A9 [199], NPPA (natriuretic peptide A) [200], SCT (secretin) [201], DCX (doublecortin) [202], ASIC1 [203], LMX1B [204], DBP (D-box binding PAR bZIP transcription factor) [205] and SLC6A9 [206] levels are correlated with disease severity in patients with hypertension. CAMP (cathelicidin antimicrobial peptide) [207], SPP1 [208].…”

Section: Discussionmentioning

confidence: 99%

Identification and Interaction Analysis of Molecular Markers in Myocardial Infarction by Integrated Bioinformatics Analysis

Vastrad¹,

Vastrad²

2021

Preprint

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Myocardial infarction (MI) is the leading cardiovascular diseases in worldwide, yet relatively little is known about the genes and signaling pathways involved in MI progression. The present investigation aimed to elucidate potential crucial candidate genes and pathways in MI. expression profiling by high throughput sequencing dataset (GSE132143) was downloaded from the Gene Expression Omnibus (GEO) database, which included data from 20 MI samples and 12 normal control samples. Differentially expressed genes (DEGs) were identified using t-tests in the DESeq2 R package. These DEGs were subsequently investigated by Gene Ontology (GO) and pathway enrichment analysis, a protein-protein interaction (PPI) network, modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network were constructed and analyzed. Hub genes were validated by receiver operating characteristic curve (ROC) analysis. In total, 958 DEGs were identified, of which 480 were up regulated and 478 were down regulated. GO and pathway enrichment analysis results revealed that the DEGs were mainly enriched in, immune system, neuronal system, response to stimulus, and multicellular organismal process. A PPI network, modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network was constructed by using Cytoscape software, and CFTR, CDK1, RPS13, RPS15A, RPS27, NOTCH1, MRPL12, NOS2, CCDC85B and ATN1 were identified as the hub genes. Our results highlight the important roles of the genes including CFTR, CDK1, RPS13, RPS15A, RPS27, NOTCH1, MRPL12, NOS2, CCDC85B and ATN1 in MI pathogenesis or therapeutic management.

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“…After further refinement, eight articles were removed for the following reasons: (i) two studies for using different cohorts for CVD and PE (19,29) ; (ii) one article for investigating different women with CVD and a history of PE, although from the same cohort (30) ; (iii) two for making conclusions on the shared risk of PE and CVD using genes predisposed to CVD from another study (31,32) and (iv) for not testing for CVD risk (31,32) ; (v) two for studying CVD risk in women with PE during delivery, but not conducting any follow-up research on CVD risk (33,34) ; and (vi) one study for not mentioning the number of women with PE (18) (see Supplementary Tables S1-S6 for details). The included studies consisted of two studies on CVD endpoints following PE (35,36) and four on CVD risk factors following PE (37)(38)(39)(40) (see Supplementary Tables S1-S6). Ultimately, six articles met the study selection criteria.…”

Section: Study Selectionmentioning

confidence: 99%

“…The quality scores of six included studies (35)(36)(37)(38)(39)(40) and the excluded eight studies (18,19,29,(30)(31)(32)(33)41) that reached the final screening stage are shown in Supplementary Tables S1-S3. The six studies that passed the final screening were all case-control design.…”

Section: Quality Assessmentmentioning

confidence: 99%

Genomic variation associated with cardiovascular disease progression following preeclampsia: A systematic review

Krishnamurthy

Nguyen

Tram

et al. 2023

Preprint

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Background: Women with a history of preeclampsia (PE) have been shown to have up to five times the risk of developing later-life cardiovascular disease (CVD). While PE and CVD are known to share clinical and molecular characteristics, there are limited studies investigating their shared genomics (genetics, epigenetics or transcriptomics) variation over time. Therefore, we sought to systematically review the literature to identify longitudinal studies focused on the genomic progression to CVD following PE. Methods: A literature search of primary sources through PubMed, Scopus, Web of Science and Embase via OVID was performed. Studies published from January 1st, 1980, to February 02nd, 2023, that investigated genomics in PE and CVD were eligible for inclusion. Studies that did not include CVD or related risk factors as an outcome, were in non-human species or focused on pregnancy complications other than PE were excluded. Included studies were screened based on Cochrane systematic review guidelines in conjunction with the PRISMA 2020 checklist. Eligible articles were further assessed for quality using the Newcastle-Ottawa scale. Results: A total of 8929 articles were screened with 14 studies subjected to quality assessment. Following further evaluation, six studies were included for final review. All six of these studies were heterogeneous in regard to CVD/risk factors as an outcome, gene mapping approach, and in different targeted genes. The only common variable across all six studies was use of a case-control study design. Conclusions: Our results provide critical insight into the heterogeneous nature of genomic studies investigating CVD following PE and highlight the urgent need for longitudinal studies to further investigate the genetic variation underlying the progression to CVD following PE.

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Association of Aquaporin-3, Aquaporin-7, NOS3 and CYBA polymorphisms with hypertensive disorders in women

Cited by 11 publications

References 35 publications

CYBA C242T polymorphism is a risk factor for pre-eclampsia:a case control study

CYBA C242T polymorphism is a risk factor for pre-eclampsia:a case control study

Identification and Interaction Analysis of Molecular Markers in Myocardial Infarction by Integrated Bioinformatics Analysis

Genomic variation associated with cardiovascular disease progression following preeclampsia: A systematic review

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