Related Experiment Video
Updated: Feb 25, 2026
08:52
Software-Assisted Quantitative Measurement of Osteoarthritic Subchondral Bone Thickness
Published on: March 18, 2022
3.5K
The osteoarthritis and height GDF5 locus yields its secrets
1Montreal Heart Institute and the Faculté de Médecine, Université de Montréal, Montreal, Quebec, Canada.
Nature Genetics
|July 28, 2017
Summary
Researchers characterized the GDF5 gene, linked to osteoarthritis and height. Evidence suggests positive selection for shorter stature in modern humans, Neandertals, and Denisovans at this locus.
Area of Science:
- Human genetics
- Evolutionary biology
- Paleogenomics
Background:
- The Growth Differentiation Factor 5 (GDF5) gene locus is implicated in human traits.
- Osteoarthritis (OA) risk and adult height are complex phenotypes influenced by genetic factors.
- Understanding the evolutionary history of genes associated with human physical traits is crucial.
Purpose of the Study:
- To perform molecular characterization of the GDF5 locus.
- To investigate the association of GDF5 with osteoarthritis risk and human height.
- To explore evidence of natural selection acting on the GDF5 locus in human evolution.
Main Methods:
- Molecular characterization of the GDF5 genomic region.
- Association analyses linking GDF5 variants to height and OA risk.
- Comparative genomic analyses to detect signatures of positive selection in modern and archaic humans.
Main Results:
- The GDF5 locus was molecularly characterized.
- Significant associations were found between GDF5 and human height and osteoarthritis risk.
- Evidence of positive selection for reduced stature at the GDF5 locus was identified in modern humans, Neandertals, and Denisovans.
Conclusions:
- The GDF5 locus plays a role in human height and osteoarthritis susceptibility.
- Short stature at the GDF5 locus appears to be an adaptive trait shaped by positive selection across different hominin groups.
- This finding sheds light on the evolutionary pressures influencing human physical characteristics.
More Related Videos
07:32Standardized Histomorphometric Evaluation of Osteoarthritis in a Surgical Mouse Model
Published on: May 6, 2020
13.3K
07:22Glycemic Impact on Knee Osteoarthritis Symptoms on Physical, Radiographic, and Inflammatory Markers among Individuals Aged 50 and Over with Diabetes
Published on: March 7, 2025
1.1K
Related Concept Videos
01:18Polygenic Traits
69.5K
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...
69.5K
01:10Nature and Nurture
22.5K
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
22.5K
01:11Genome-wide Association Studies-GWAS
15.9K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.9K
01:27Growth of Cartilage and Bone Tissue
4.5K
Chondrocytes form a temporary cartilaginous model by dividing and secreting a thick gel-like extracellular matrix. Once the chondrocytes undergo programmed cell death, osteoblasts enter the site of the cartilaginous model. The process of replacing the temporary cartilaginous model with bone in an ordered manner is called endochondral ossification. In endochondral ossification, not all of the cartilage is replaced by bone tissue. Some cartilage that performs a protective and supportive function...
4.5K
01:24Bone Formation by Endochondral Ossification
10.1K
Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
10.1K
01:19X-linked Traits
59.1K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.1K