Related Experiment Video
Updated: Jul 5, 2026
07:56
Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
Multiple genetic loci for bone mineral density and fractures
Unnur Styrkarsdottir1, Bjarni V Halldorsson, Solveig Gretarsdottir
1deCODE Genetics, Reykjavik, Iceland.
The New England Journal of Medicine
|May 1, 2008
Summary
Researchers identified genetic variants linked to bone mineral density and fractures. These findings offer insights into osteoporosis pathways, though not yet for individual risk prediction.
Area of Science:
- Genetics
- Osteoporosis Research
- Bone Biology
Background:
- Bone mineral density (BMD) is crucial for assessing osteoporosis risk and fracture likelihood.
- Identifying genetic factors influencing BMD can elucidate disease mechanisms.
Purpose of the Study:
- To identify sequence variants associated with bone mineral density (BMD).
- To investigate the association between genetic variants and osteoporotic fractures.
Main Methods:
- Genome-wide association study (GWAS) on 5861 Icelandic subjects.
- Testing 301,019 single-nucleotide polymorphisms (SNPs) for association with hip and lumbar spine BMD.
- Replication analysis in Icelandic, Danish, and Australian cohorts.
Main Results:
- Five genomic regions showed significant association with BMD, confirmed across replication sets.
- Variants near RANKL, OPG, ESR1, ZBTB40, and MHC regions were associated with BMD.
- Loci at 1p36, 8q24, 6p21, 18q21 (near RANK), 2p16, and 11p11 were associated with osteoporotic fractures.
Conclusions:
- Common sequence variants consistently associated with BMD and low-trauma fractures were discovered.
- These variants provide valuable insights into the biochemical pathways of osteoporosis.
- While not directly predictive for individuals, the variants advance understanding of bone health genetics.
Related Concept Videos
01:29Bone Disorders
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:18Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
01:31Essential Minerals for Bone Health
The minerals contained in all of the food we consume are essential for our organ systems. However, certain essential minerals, such as calcium, phosphorus, magnesium, manganese, and fluoride, largely affect bone health.
Calcium and Phosphorus
Calcium is a critical component of bones, especially in the form of calcium phosphate and calcium carbonate. Since the body cannot make calcium, it must be obtained from the diet. However, calcium cannot be absorbed from the small intestine without...
Calcium and Phosphorus
Calcium is a critical component of bones, especially in the form of calcium phosphate and calcium carbonate. Since the body cannot make calcium, it must be obtained from the diet. However, calcium cannot be absorbed from the small intestine without...
01:31Bone Remodeling and Repair
Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
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...
01:27Fractures: Bone Repair
Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the procedure...
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the procedure...