Omics Data Integration Uncovers mRNA-miRNA Interaction Regions in Genes Associated with Chronic Venous Insufficiency.

Chronic venous insufficiency (CVI), a chronic vascular dysfunction, is a common health problem that causes serious complications such as painful varicose veins and even skin ulcers. Identifying the underlying genetic and epigenetic factors is important for improving the quality of life of individuals with CVI. In the literature, many genes, variants, and miRNAs associated with CVI have been identified through genomic and transcriptomic studies.

The impact of the vitamin D and resveratrol administration on the stiffness and elasticity of T2DM rat aorta associated with the trace element and mineral levels.

Background: Type 2 diabetes mellitus (T2DM) is directly associated with increased aortic stiffness, reduced aortic elasticity, and aortic dissection, which are independent risk factors for cardiovascular death. Since Vit D and resveratrol have been reported due to their cardioprotective effects, in this study, we aim to evaluate the impact of Vit D and resveratrol treatment alone or in combination on the aortic health associated with trace element and mineral levels in a high-fructose diet/streptozotocin-induced T2DM model.

Methods: We investigated biomechanical changes of the aorta samples via a custom-built stretcher, where trace element and mineral levels in aorta samples were determined via inductively coupled plasma mass spectrometry (ICP-MS) following acidic microwave digestion.

Genetic variants of ANRIL and coronary artery disease: Insights from a Turkish study population.

Background And Aim: Coronary artery disease (CAD) remains a leading cause of morbidity and mortality globally despite advancements in treatment. Long non-coding RNAs (lncRNAs) play crucial roles in the atherosclerotic process, with ANRIL being one such lncRNA. This study explored the association between ANRIL polymorphisms (rs1333049:C > G, rs564398:T > C, and rs10757274:A > G) and CAD along with CAD risk factors in a Turkish patient group.

Association of Intelectin 1 Gene rs2274907 A > T Polymorphism with Obesity, Type 2 Diabetes, Serum Intelectin-1 Levels and Lipid Profiles in Turkish Adults.

The anti-inflammatory adipokine intelectin-1, which is encoded by the ITLN1 gene, is hypothesized to be linked to the pathogenesis of type 2 diabetes (T2DM) and obesity. The purpose of this study was to examine the effect of the ITLN1 gene polymorphism rs2274907 on obesity and T2DM in Turkish adults. The impact of genotype on lipid profiles and serum intelectin levels in the obese and diabetes groups was also investigated.

FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies.

Fraser syndrome (FS) is a rare multiple malformation disorder characterized by cryptophthalmos, characteristic craniofacial dysmorphism, cutaneous syndactyly, malformations of the respiratory and urinary tract, and anogenital anomalies. Although the characteristic presentation of FS can be detected prenatally, oligohydramnios often challenges the clinical diagnosis. Here we report on the atypical prenatal and postmortem findings of a fetus with FS caused by a novel homozygous frameshift variant in FREM2.

Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.

Background: Pathogenic missense variants in PRKAG2, the gene for the gamma 2 regulatory subunit of adenosine monophosphate-activated protein kinase (AMPK), cause severe progressive cardiac disease and sudden cardiac death, named PRKAG2 cardiomyopathy. In our previous study, we reported a E506K variant in the PRKAG2 gene that was associated with this disease. This study aimed to functionally characterize the three missense variants (E506K, E506Q, and R531G) of PRKAG2 and determine the possible effects on AMPK activity.

Effect of vitamin D supplementation on OPG/RANKL signalling activities in endothelial tissue damage in diet-induced diabetic rat model.

Background: Type 2 Diabetes Mellitus is a chronic metabolic disease that causes endothelial damage and is an important risk factor for atherosclerosis. In the present study vitamin D3 supplementation in rats was used to determine the role of Osteoprotegerin (OPG)/Receptor activator kB ligand (RANKL) signalling in endothelial damage and changes in the expression levels of genes involved in this pathway. We hypothesized that vitamin D3 supplementation affects OPG and RANKL activity in the aorta.

Circulating Levels of MicroRNAs in Hypertrophic Cardiomyopathy: The Relationship With Left Ventricular Hypertrophy, Left Atrial Dilatation and Ventricular Depolarisation-Repolarisation Parameters.

Background: MicroRNAs are small, endogenous, non-coding RNAs that regulate the expression of many genes. It has recently been shown that circulating microRNAs may be biomarkers of hypertrophy and fibrosis in patients with hypertrophic cardiomyopathy (HCM).

Objective: To determine whether circulating levels of microRNAs involved in HCM are associated with electrocardiographic and echocardiographic parameters.

Identification of miR-16-5p and miR-155-5p microRNAs differentially expressed in circulating leukocytes of pregnant women with polycystic ovary syndrome and gestational diabetes.

Pregnant women with polycystic ovary syndrome (PCOS) are at increased risk of gestational diabetes (GDM). We aimed to assess the expressions of candidate microRNAs (miRs) in leukocytes of pregnant women with PCOS and GDM. Using real-time quantitative PCR method, miR-16-5p and miR-155-5p were examined from PCOS ( = 17), GDM ( = 14), GDM + PCOS ( = 11), and controls ( = 27).

Sex-specific associations of TCF7L2 variants with fasting glucose, type 2 diabetes and coronary heart disease among Turkish adults.

Objective: TCF7L2 is a repressor and transactivator of genes, and its variants are strongly associated with diabetes. This study aimed to evaluate the sex-specific relationship between the most common TCF7L2 gene variants (-98368G>T, rs12255372 and -47833C>T, rs7903146) with diabetes and coronary heart disease in Turkish Adult Risk Factor (TARF) Study.

Methods: Single nucleotide variants (SNVs) have been genotyped using the TaqMan allelic discrimination assays in 2,024 (51.

Expression profiles of candidate microRNAs in the peripheral blood leukocytes of patients with early- and late-onset preeclampsia versus normal pregnancies.

Objectives: Maternal leucocytes play an important role in the pathogenesis of preeclampsia (PE). Circulating microRNAs (miRNAs) are small, noncoding RNA molecules. The purpose of this study was to investigate miR-518b, miR-155-5p, and miR-21-3p in the peripheral blood leukocytes of patients with PE, compared to controls.

Differential expression of candidate circulating microRNAs in maternal blood leukocytes of the patients with preeclampsia and gestational diabetes mellitus.

Objectives: Preeclampsia (PE) is diagnosed in women presenting with new onset hypertension accompanied by proteinuria. Gestational diabetes mellitus (GDM) is the carbohydrate intolerance that can occur in pregnancy. Neutrophil activation is related to PE and GDM.

The rs2516839 variation of USF1 gene is associated with 4-year mortality of nonagenarian women: The Vitality 90+ study.

Upstream transcription factor 1 (USF1) regulates the transcription of many genes related to cell and organism survival processes such as stress and immune response, regulation of cellular senesce, and carcinogenesis. In this study, our aim was to investigate the effect of USF1 single nucleotide variations (SNVs) on longevity in the Vitality 90+ study, a population-based study of nonagenarians (90 ±1 years of age) living in the area of Tampere municipality, Finland. Altogether 509 voluntary nonagenarians (115 males, 394 females) were genotyped using the 5'-nuclease assay for rs2774279G > A, rs2516839T > C, and rs2073658C > T SNVs.

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.

Background: Brugada syndrome (BrS) is an inheritable cardiac disease associated with syncope, malignant ventricular arrhythmias and sudden cardiac death. The largest proportion of mutations in BrS is found in the SCN5A gene encoding the α-subunit of cardiac sodium channels (Nav1.5).

Association between non-coding polymorphisms of HOPX gene and syncope in hypertrophic cardiomyopathy.

Objective: Homeodomain Only Protein X (HOPX) is an unusual homeodomain protein which regulates Serum Response Factor (SRF) dependent gene expression. Due to the regulatory role of HOPX on SRF activity and the regulatory role of SRF on cardiac hypertrophy, we aimed to investigate the relationship between HOPX gene variations and hypertrophic cardiomyopathy (HCM).

Methods: In this study, designed as a case-control study, we analyzed coding and flanking non-coding regions of the HOPX gene through 67 patients with HCM and 31 healty subjects.

Gender-specific associations of the APOA1 -75G>A polymorphism with several metabolic syndrome components in Turkish adults.

Background: Variations in the apolipoprotein A-1 (APOA1) gene, a determinant of plasma high-density lipoprotein cholesterol (HDL-C) and apoA-I levels, may contribute to cardiovascular diseases. We evaluated the effects of a promoter polymorphism (-75G>A) in the APOA1 gene on metabolic syndrome (MetS) components in a Turkish population sample.

Methods: Randomly selected 1515 Turkish adults (age 49.

Gender specific association of ABCA1 gene R219K variant in coronary disease risk through interactions with serum triglyceride elevation in Turkish adults.

Objective: ATP binding cassette transporter A1 (ABCA1) controls the reverse cholesterol transport. Some ABCA1 variants are correlated with serum high-density lipoprotein cholesterol (HDL-C) and other lipid concentrations. We aimed to explore the relationship of ABCA1 gene with both the lipid profile and coronary heart disease (CHD) risk.

Minor allele of the APOA4 gene T347S polymorphism predisposes to obesity in postmenopausal Turkish women.

The aim of this study was to examine the relationship between APOA4 gene T347S polymorphism with obesity measures and serum lipids in Turkish adults. Randomly selected sample of 1,554 adults (754 men, mean age 50.4 ± 11.

Isolation and analysis of genes mainly expressed in adult mouse heart using subtractive hybridization cDNA library.

Subtractive hybridization cDNA library (SHL) is one of the powerful approaches for isolating differentially expressed genes. Using this technique between mouse heart and skeletal muscle (skm) tissues, we aimed to construct a cDNA-library that was specific to heart tissue and to identify the potential candidate genes that might be responsible for the development of cardiac diseases or related pathophysiological conditions. In the first step of the study, we created a cDNA-library between mouse heart and skm tissues.

Gender- and obesity-specific effect of apolipoprotein C3 gene (APOC3) -482C>T polymorphism on triglyceride concentration in Turkish adults.

Background: Apolipoprotein C3 (APOC3) gene polymorphisms are associated with cardiometabolic risk factors, varying in ethnicities. This study aimed to investigate such association between the APOC3 -482C>T polymorphism and cardiometabolic risk factors in the turkish adult risk factor (TARF) study cohort, stratifying by gender and obesity.

Methods: Randomly selected 1548 individuals (757 male and 791 female, mean age 49.

Niemann-Pick type C fibroblasts have a distinct microRNA profile related to lipid metabolism and certain cellular components.

MicroRNAs (miRNAs) are non-coding RNAs that regulate gene expression at post-transcriptional level. Dysregulation of miRNA expression may lead to severe pathophysiologies in human cells. Niemann-Pick type C (NPC) disease is a complex lipid storage disease characterized by late endosomal-lysosomal accumulation of multiple lipid molecules.

The APOE -219G/T and +113G/C polymorphisms affect insulin resistance among Turks.

The -219G/T (rs405509) and +113G/C (rs440446) polymorphisms within the regulatory region of the apolipoprotein E (APOE) gene have been related to the transcriptional activity of the gene. We examined the effect of the stated polymorphisms and their construct haplotypes with the APOE ɛ2/ɛ3/ɛ4 polymorphism on lipid levels and insulin resistance in the Turkish Adult Risk Factor Study. Randomly selected 1774 adults (mean age, 55.

The variations of BOP gene in hypertrophic cardiomyopathy.

Objective: The observation that Bop null allele mice show underdeveloped right ventricle and excessive development of left ventricle, suggests the possible relationship between human BOP gene and hypertrophic cardiomyopathy (HCMP). In our study, we investigated this possible relationship between BOP gene variations and QT dispersion, a noninvasive arrhythmic risk marker for HCMP.

Methods: This cross-sectional study consisted of 50 patients clinically diagnosed with HCMP and 60 healthy subjects.

Apolipoprotein A-I positively associated with diabetes in women independently of apolipoprotein E genotype and apolipoprotein B levels.

Objective: Given the elevated apolipoprotein (apo) A-I level enhancement of type 2 diabetes among Turks, the interrelation among it, apoB, and apoE genotype with respect to the likelihood of diabetes and metabolic syndrome (MetS), and the role of gender need further investigation.

Methods: A random sample of Turkish adults genotyped for apoE with measured serum apoB and apoA-I concentrations was studied cross-sectionally. Apo ε2/ε4 genotype was excluded to avoid confounding.

Association of C-reactive protein (CRP) gene allelic variants with serum CRP levels and hypertension in Turkish adults.

Objective: Serum C-reactive protein (CRP) is an independent risk factor for cardiovascular disease and metabolic syndrome (MetS). The aim of this study was to analyze the CRP gene allelic variations in the Turkish adult risk factor (TARF) study and relate them with serum CRP levels as well as MetS and its components.

Methods: We analyzed CRP gene polymorphisms (-286C>T>A [rs3091244], +1444C>T [rs1130864], +1059G>C [rs1800947], and +1846G>A [rs1205]) as well as their haplotypes, in addition to measuring CRP levels (n=1138) and collecting risk factor data from 1987 adults (mean age 54.