A5006766025- Vitamin D Research Studies
- Parathyroid Disorders and Treatments
- Bone health and osteoporosis research
- Ovarian function and disorders
- MicroRNA in disease regulation
- Vitamin K Research Studies
- Bone Metabolism and Diseases
- Growth Hormone and Insulin-like Growth Factors
- Genetic Syndromes and Imprinting
- Vitamin C and Antioxidants Research
- Cancer-related molecular mechanisms research
- Dermatological and Skeletal Disorders
- Biomarkers in Disease Mechanisms
- Bone and Dental Protein Studies
- Pregnancy and preeclampsia studies
- Systemic Sclerosis and Related Diseases
- Nutrition, Genetics, and Disease
- Bone health and treatments
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Genetic Associations and Epidemiology
- Reproductive System and Pregnancy
- Nutrition and Health in Aging
- Hormonal Regulation and Hypertension
- Digestive system and related health
Medical University of Graz
2012-2025
University of Graz
2010
Introduction Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances including insulin resistance (IR), which might be related to vitamin D metabolism. We aimed investigate the association of polymorphisms in receptor ( VDR ) gene as well level-associated genes and endocrine parameters PCOS women. Moreover, we examined whether there are associations susceptibility. Methods Metabolic, endocrine, anthropometric measurements oral glucose tolerance tests were...
ROS are implicated in bone diseases. NADPH oxidase 4 (NOX4), a constitutively active enzymatic source of ROS, may contribute to the development such disorders. Therefore, we studied role NOX4 homeostasis. Nox4(-/-) mice displayed higher density and reduced numbers markers osteoclasts. Ex vivo, differentiation monocytes into osteoclasts with RANKL M-CSF induced Nox4 expression. Loss activity attenuated osteoclastogenesis, which was accompanied by impaired activation RANKL-induced NFATc1...
We previously identified the trimethylsulfonium ion (TMS) in human urine and highlighted its potential as a novel H2S biomarker but observed significant inter-individual variability urinary excretion of TMS. In this work we investigate contribution genetic factors to large group European subjects (n = 100). Urinary TMS concentrations displayed two clusters within 5.0-20nM 100-400nM. Genotyping revealed that clustering is linked single nucleotide polymorphism (rs6970396) INMT gene, P <0.001....
In a recent genome-wide association study investigating Han Chinese PCOS women 3 loci that are strongly associated with were identified on chromosome 2p16.3 (rs13405728), 2p21 (rs13429458), and 9q33.3 (rs2479106). The aim of the was to investigate impact rs13405728, rs13429458, rs2479106 variants susceptibility in Caucasian cohort control women. Metabolic, endocrine, anthropometric measurements oral glucose tolerance tests performed 545 317 polymorphisms genotyped. There no significant...
Chronic kidney disease (CKD) is associated with a multifactorial dysregulation of bone and vascular calcification closely linked to increased cardiovascular mortality concomitant disease. We aimed investigate specific microRNA (miRNA) signatures in CKD patients find indicators for and/or mineralization changes during after transplantation (KT). A miRNA array was used serum profiles patients, then selected miRNAs were quantified validation cohort comprising 73 stages 3 5, 67 KT, 36 healthy...
Osteoporosis is a multifactorial disease influenced by genetic and environmental factors, which contributes to an increased risk of bone fracture, but early diagnosis this cannot be achieved using current techniques. We describe generic platform for the targeted electrochemical genotyping SNPs identified genome-wide association studies associated with predisposition osteoporosis. The exploits isothermal solid-phase primer elongation ferrocene-labeled nucleoside triphosphates. Thiolated...
BACKGROUND Decreased circulating 25-hydroxy-vitamin D (25-OH-vitamin D) concentrations have been associated with mortality rates, but it is unclear whether this association causal. We performed a Mendelian randomization study and analyzed 3 common single-nucleotide polymorphisms (SNPs) 25-OH-vitamin are causal for rates. METHODS Genotypes of SNPs in the group-specific component gene (GC, rs2282679), 7-dehydrocholesterol reductase (DHCR7, rs12785878), cytochrome P450 IIR-1 (CYP2R1,...
tacrolimus and everolimus are immunosuppressive drugs metabolized by enzymes of the CYP3A subfamily. A common variant CYP3A5 gene, CYP3A5*3, results in strongly decreased activity has been shown to influence Tacrolimus blood concentrations, but its role for pharmacogenetics Everolimus remains unclear. Aim study was examine CYP3A5*3 dose drug levels after heart transplantation.The present comprised 15 patients with 30 Everolimus-based maintenance therapy transplantation. genotypes were...
Hashimoto's thyroiditis (HT) is the most prevalent autoimmune disorder of thyroid (AITD) and characterized by presence circulating autoantibodies evoked a, to date, not fully understood dysregulation immune system. Autoreactive lymphocytes inflammatory processes in gland can impair or enhance hormone secretion. MicroRNAs (miRNAs) are small noncoding RNAs, which play a pivotal role functions development autoimmunity. The aim present study was evaluate whether expression 9 selected miRNAs...
Summary Osteocalcin ( OC ) – released by osteoblasts and known as a marker of bone turnover has been suggested to influence male fertility in murine models enhancing testosterone production sperm count. Results from clinical studies are scarce, however. The aim this cross‐sectional study was investigate the proposed association , undercarboxylated osteocalcin (uc or carboxylated (c with count cohort 159 young adults infertile couples. Semen analysis performed. Testosterone, free...
Low 25-hydroxycholecalciferol [25(OH) vitamin D] status is known to play an important role in many diseases with focus on bone health. Based recently reported genetic determinants of D insufficiency, we aimed analyze variants group-specific component (GC), 7-dehydrocholesterol reductase (DHCR7), and cytochrome P450IIR-1 (CYP2R1) for association levels, mineral density (BMD), fractures. We conducted a cross-sectional BMD fracture study prospective cohort study. The comprised participants...
Insulin-sensitizer treatment with metformin is common in polycystic ovary syndrome (PCOS). OCT alleles were investigated PCOS patients to identify genetic 'bad responders' and 'nonresponders' including their possible effects on glucose metabolism without treatment. We genotyped eight SNPs OCT1, OCT2 ATM genes 676 women 90 control women, we also measured oral tolerance tests prior Nonfunctional present 29.8% low-functional 57.9% of our cohort. variants significantly associated elevated...
MicroRNAs (miRNAs) are single-stranded, non-coding RNAs that regulate mRNA expression on a post-transcriptional level. Observational studies suggest an association of serum miRNAs and polycystic ovary syndrome (PCOS), common heterogeneous endocrinopathy characterized by hyperandrogenism (HA), oligo- or amenorrhea (OM) ovaries. It is not known whether these miRNA profiles also differ between PCOS phenotypes. In this pilot study, we compared the four phenotypes (A–D) analyzed them both in (all...
Steroid hormone imbalance is associated with the pathogenesis of preeclampsia. However, affected enzymes steroid metabolism and gene protein expression in serum placenta have not been elucidated yet. We aimed to investigate profiles precursor-to-product ratios preeclamptic women compared healthy pregnancy (controls) identify potentially hormones their metabolizing enzymes. Also, we whether mRNA these different between study groups levels reflect postnatal placental expression. Serum 14 were...
Aims: As data on the cardiovascular risk associated with CYP2C8 and CYP2C9 polymorphisms is controversial, we performed a cross-sectional analysis of subjects enrolled in Ludwigshafen Risk Cardiovascular Health (LURIC) study. Materials & methods: genetic were determined real-time PCR 2827 patients. Based angiography, 1052 these patients had coronary artery disease (CAD) 615 did not; 1160 signs or history myocardial infarction (MI) addition to CAD. The association genotypes CAD MI was by...
The 25-Hydroxyvitamin D (25[OH)D) serum concentration depends on vitamin intake, endogenous production and genetic factors. latter have been demonstrated in large genome-wide association studies indicating that single nucleotide polymorphisms (SNPs) genes related to the metabolism are as important for 25(OH)D levels influence of season. mechanism how these SNPs still unclear. aim present study was investigate effects ten selected 25-hydroxyvitamin increase (∆25(OH)D) after supplementation...
Background: Erythropoietin has a pivotal role in erythropoiesis and angiogenesis. A common polymorphism (rs1617640, > C) the promoter of erythropoietin gene (EPO) been associated with expression microvascular complications diabetes. We aimed to analyze potential this pathogenesis peripheral arterial disease (PAD). Methods: EPO genotypes laboratory markers for were determined 945 patients PAD. Results: The minor rs1617640 C-allele was an allele-dose-dependent manner hemoglobin levels (p =...