Objective: In this study the association between K55R polymorphism, methylation level of the EPHX2 promoter region, and PE was investigated in 520 individuals including 260 PE patients and 260 healthy pregnant women.
Methods: K55R polymorphism and methylation level of the EPHX2 promoter were determined by the real-time PCR using double-dye hydrolysis probes and methylation-sensitive high-resolution melting analysis, respectively.
Results: The presence of the K55R polymorphism was significantly higher in cases (28.1%) than controls (17.3%), and was associated with increased risk of PE (OR: 1.86; 95% CI: 1.09-2.63). Methylation levels of the EPHX2 promoter region in cases were significantly lower than controls. A 2.83 times increased PE risk was observed in pregnant women with EPHX2 promoter methylation levels of <25% (OR: 2.83; 95% CI: 1.15-6.91).
Conclusion: In conclusion, hypomethylation of the promoter region of EPHX2 and K55R polymorphism were associated with significant increased risk of PE. sEH enzyme may play a role in the pathogenesis of PE by contributing to reduction of the vasodilatator, anti-hypertensive, and anti-inflammatory effects of EETs by rapid degradation of these molecules.
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http://dx.doi.org/10.1080/10641955.2017.1388390 | DOI Listing |
Gene
February 2023
School of Biological Sciences, National Institute of Science Education and Research (NISER) Bhubaneswar, P.O. Bhimpur-Padanpur, Jatni, Khurda, Odisha 752050, India; Homi Bhabha National Institute (HBNI), Training School Complex, Anushaktinagar, Mumbai 400094, India. Electronic address:
Polymorphisms in the PTK2B-CLU locus have been associated with various neurodegenerative disorders including pseudoexfoliation glaucoma, Alzheimer's and Parkinson's. Many of these genomic variants are within enhancer elements and modulate genes associated with the disease pathogenesis. However, mechanisms by which they control the gene expression is unknown.
View Article and Find Full Text PDFEat Weight Disord
June 2022
MAGI EUREGIO, Bolzano, Italy.
Purpose: The aim of this study was to increase knowledge of genes associated with anorexia nervosa (AN) and their diagnostic offer, using a next generation sequencing (NGS) panel for the identification of genetic variants. The rationale underlying this test is that we first analyze the genes associated with syndromic forms of AN, then genes that were found to carry rare variants in AN patients who had undergone segregation analysis, and finally candidate genes intervening in the same molecular pathways or identified by GWAS or in mouse models.
Methods: We developed an NGS gene panel and used it to screen 68 Italian AN patients (63 females, 5 males).
J Med Biochem
October 2020
Niğde Omer Halisdemir University, Faculty of Medicine, Department of Obstetrics and Gynaecology, Niğde, Turkey.
Background: The epoxyeicosatrienoic acids (EETs) have antihypertensive, anti-inflammatory, and organ protective properties and their circulation levels are related to hypertension, diabetes mellitus, cardiovascular diseases, and preeclampsia. Soluble epoxide hydrolase (sEH) catalyses the degradation of EETs to less biologically active dihydroxyeicosatrienoic acids. Here, we sequenced the promoter region of to investigate the association between promoter sequence alterations that we thought to affect the expression levels of the enzyme and preeclampsia (PE).
View Article and Find Full Text PDFActa Physiol (Oxf)
January 2019
Institute for Cardiovascular Physiology, Goethe-University, Frankfurt am Main, Germany.
Aim: The histone demethylase Jarid1b limits gene expression by removing the active methyl mark from histone3 lysine4 at gene promoter regions. A vascular function of Jarid1b is unknown, but a vasoprotective function to inflammatory and hypertrophic stimuli, like angiotensin II (AngII) could be inferred. This hypothesis was tested using Jarid1b knockout mice and the inhibitor PBIT.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2018
Department of Physiology, New York Medical College, Valhalla, NY 10595;
To elucidate molecular mechanisms responsible for the sexually dimorphic phenotype of soluble epoxide hydrolase (sEH) expression, we tested the hypothesis that female-specific down-regulation of sEH expression is driven by estrogen-dependent methylation of the gene. Mesenteric arteries isolated from male, female, ovariectomized female (OV), and OV with estrogen replacement (OVE) mice, as well as the human cell line (HEK293T) were used. Methylation-specific PCR and bisulfite genomic sequencing analysis indicate significant increases in DNA/CG methylation in vessels of female and OVE compared with those of male and OV mice.
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