Variants in the 5'‐UTR of <i>APELA</i> gene in women with preeclampsia

Yang, Xin; Bian, Yuehong; Wan, Jipeng; Li, Lei; Yang, Ping; Zhao, Shigang; Zhao, Han

doi:10.1002/pd.5431

Cited by 7 publications

(4 citation statements)

References 30 publications

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“…Consistent with prior studies, the downregulation of APELA has been associated with vascular constriction and the development of micro-and macrovasculature disorders, including conditions such as preeclampsia (20) and pulmonary artery disease in individuals with chronic lung diseases (21). This observation aligns with epidemiological reports indicating an elevated risk of preeclampsia in pregnancies at higher altitudes (22), and arterial remodeling in dwellers with chronic exposure to these settings (23).…”

Section: Discussionsupporting

confidence: 88%

The effect of altitude on the expression of immune-related genes in Peruvian rural indigenous

Jaramillo-Valverde,

de Araújo,

Poterico

et al. 2024

Preprint

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Background: Some genes associated with immune response have been elucidated in some Andean populations, which may explain part of the immune system adaptation and pathogen response in high-altitude residents. We performed differential expression analysis and mainly focused on genes with high fold-change between groups and those genes with differential expression related to the immune system. Methods: We performed a transcriptome analysis of Peruvian individuals, primarily from rural areas, with high genetic backgrounds from ancient indigenous people, exposed to different living altitudes (high vs low). We collected peripheral blood mononuclear cells (PBMC) from 62 volunteers and exposed them to bacterial lipopolysaccharide (LPS), Pam3CSK4 (a synthetic triacylated lipopeptide responsible for bacterial components), and R848 (an imidazoquinoline compound related to viral nucleic acids). Results: Differential expression analysis results and data integration analysis with immune system pathway data exhibit a set of 17 genes associated with the immune system, nine down-regulated genes (ITGAX, CCL22, CSF1, CXCL8, IL12A, MMP9, CSF2, PTGS2, ENSG00000138685.17), and eight up-regulated genes (HLA-DPB1, FN1, CD36, MMP2, HLA-DRB1, FCGR1A, CCL17, HLA-DRB5). These genes are notably enriched in antigen-presenting cells, such as dendritic cells and macrophages. Conclusion: The differential expression of immune system genes in native inhabitants with a prominent Andean genetic background highlights the active involvement of both the innate and adaptive immune systems. Remarkably, our study revealed a distinct gene expression signature in our population, setting it apart from other transcriptomic studies conducted thus far.

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Section: Discussionsupporting

confidence: 88%

The effect of altitude on the expression of immune-related genes in Peruvian rural indigenous

Jaramillo-Valverde,

de Araújo,

Poterico

et al. 2024

Preprint

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“…Yang et al reported that rare variants in the 5′-UTR of the APELA gene were associated with PE, but there have been no studies to date indicating a relationship between the APELA gene and HDPs through a haplotype-based case-control study [ 31 ]. The HDP-sensitive haplotype identified in the present study might affect variants in APELA that cause a genetic disorder.…”

Section: Discussionmentioning

confidence: 99%

A Case-Control Study of the APELA Gene and Hypertensive Disorders of Pregnancy

et al. 2022

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Hypertensive disorders of pregnancy (HDPs) are believed to comprise a group of multifactorial genetic diseases. Recently, it was reported that APELA-knockout mice exhibited HDP-like symptoms, including proteinuria and elevated blood pressure due to defective placental angiogenesis. The aim of the present study is to determine the associations between HDPs and single-nucleotide variants or haplotypes in the human APELA gene through a case-control study. The subjects were 196 pregnant women with HDPs and a control group of 254 women without HDPs. Six single-nucleotide variants (rs2068792, rs13120303, rs4541465, rs13152225, rs78639146, and rs67448487) were selected from the APELA gene region. Although there were no significant differences for each single-nucleotide polymorphism in the case-control study, the frequency of the T-A haplotypes rs4541465–rs67448487 was significantly higher in the HDP group, especially in those with gestational hypertension, than in the control group. The results suggest that the APELA gene may be a disease-susceptibility gene for HDP.

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“…Another study stated that protein transcription could be reduced in women expressing rare variants of the Elabela gene, and it was suggested that this could cause an increased risk of pre-eclampsia 20 .…”

Section: Discussionmentioning

confidence: 99%

Maternal plasma Elabela levels in intrauterine growth restriction

Baylan

Karaküçük

2021

Cukurova Medical Journal

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ÖzPurpose: The aim of this study was to investigate the role of Elabela in the etiopathogenesis of intrauterine growth retardation (IUGR). Materials and Methods: The present prospective study included 43 healthy pregnant women and 46 pregnant women with IUGR. Maternal serum were collected from the control group and IUGR group at time of delivery. Elabela levels were analyzed in maternal serum through ELISA method. Results: Lower Elabela levels (IUGR: 1.09 (0.61-15.61) ng / mL and Control: 1.44 (0.37-31.33) ng / mL) were observed in IUGR patients compared to controls. Elabela levels were positively correlated with gestational week and neonatal weight. (r = 0.263, p = 0.013 and r = 0.259, respectively; p = 0.014). Conclusion:The present study serves as the first study revealing the role of the decrease in Elabela in maternal serum on the etiopathogenesis of IUGR. This suggests that Elabela could be a potential drug target in cases with IUGR. Amaç: Bu çalışmanın amacı, Elabela'nın intrauterin büyüme geriliğinin (IUGR) etyopatogenezindeki rolünü araştırmaktı. Gereç ve Yöntem: Bu prospektif çalışmaya 43 sağlıklı gebe ve 46 IUGR'li gebe dahil edildi. Kontrol grubundan ve IUGR grubundan doğum sırasında anneden kan alındı. Elabela seviyeleri anne serumunda ELISA yöntemi ile analiz edildi. Bulgular: Kontrollere kıyasla IUGR hastalarında daha düşük Elabela seviyeleri (IUGR: 1.09 (0.61-15.61) ng/mL ve Kontrol: 1.44 (0.37-31.33) ng/mL) gözlendi. Elabela seviyeleri, gebelik haftası ve yenidoğan ağırlığı ile pozitif korelasyon gösterdi. (sırasıyla r = 0.263, p = 0.013 ve r = 0.259; p = 0.014). Sonuç: Bu çalışma, anne serumunda Elabela'daki azalmanın IUGR etyopatogenezindeki rolünü ortaya koyan ilk çalışma olma özelliğini taşımaktadır. Bu, Elabela'nın IUGR'li vakalarda potansiyel bir ilaç hedefi olabileceğini düşündürmektedir.

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Variants in the 5'‐UTR of APELA gene in women with preeclampsia

Cited by 7 publications

References 30 publications

The effect of altitude on the expression of immune-related genes in Peruvian rural indigenous

The effect of altitude on the expression of immune-related genes in Peruvian rural indigenous

A Case-Control Study of the APELA Gene and Hypertensive Disorders of Pregnancy

Maternal plasma Elabela levels in intrauterine growth restriction

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