Related Experiment Video
Updated: Jun 22, 2026
08:43
Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
Parathyroid hormone gene variant and calcific aortic stenosis
Fabian Schmitz1, Silke Ewering, Klaus Zerres
1Division of Cardiology, Pulmonary Diseases, and Vascular Medicine, Department of Medicine, University Hospital RWTH Aachen, Germany.
The Journal of Heart Valve Disease
|June 30, 2009
Summary
Genetic variants in the parathyroid hormone (PTH) gene are associated with calcific aortic stenosis (AS), a common heart valve disease in the elderly. Further research is needed to understand how these PTH gene variations affect gene expression in AS.
Area of Science:
- Cardiovascular Genetics
- Valvular Heart Disease
- Calcium Homeostasis
Background:
- Calcific aortic stenosis (AS) is a prevalent acquired valvular disease in the elderly.
- Calcium hydroxyapatite deposition is central to valve calcification.
- Vitamin D and parathyroid hormone are key regulators of calcium homeostasis.
Purpose of the Study:
- To investigate the association between genetic variants in the vitamin D receptor (VDR) and parathyroid hormone (PTH) genes and calcific AS.
- To identify potential genetic factors contributing to the development of AS.
Main Methods:
- Genotyping of three gene variants: VDR rs1544410, VDR rs1073810, and PTH rs6254.
- Analysis of 538 patients with severe calcific AS and 536 control individuals.
- Assessment of cardiovascular risk profiles and echocardiographic data.
Main Results:
- A significantly higher prevalence of the PTH AA genotype was observed in patients with AS compared to controls (p = 0.007).
- No statistically significant association was found for the studied VDR gene variants.
- Patient groups were similar in age and cardiovascular risk profiles.
Conclusions:
- The PTH gene variant shows a significant association with calcific AS in a large population.
- The molecular mechanisms underlying the effect of this PTH polymorphism on gene expression require further investigation.
- This finding highlights the role of PTH in the pathogenesis of AS.
More Related Videos
Related Concept Videos
01:17Hormones and Bone Tissue
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
00:51Synthesis and Functions of Calcitonin
Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
00:59The Parathyroid Glands
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
01:25Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT
Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...