What you carry at this position in your DNA and what research says about it.
Joint and Bone Health: 10/10 evidence, 38 publications.
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Sample genotype (not yours): G/G
Lower Risk of Joint Issues and Taller Stature
This genotype is associated with optimal GDF5 gene expression, supporting robust cartilage maintenance and skeletal growth. It is linked to a lower risk of osteoarthritis and hip dysplasia, as well as taller average height.
What this genotype means: Lower risk of osteoarthritis; Lower risk of hip dysplasia; Taller average height.
Sample genotype (not yours): A/A
Higher Risk of Joint Issues and Shorter Stature
This genotype significantly reduces GDF5 expression, leading to less efficient cartilage repair and altered bone geometry. It is associated with a higher risk of osteoarthritis, hip dysplasia, and shorter average height.
What this genotype means: Higher risk of osteoarthritis; Higher risk of hip dysplasia; Shorter average height.
Sample genotype (not yours): G/A
Slightly Higher Joint Risk and Typical Height
Carrying one copy of the A allele slightly reduces GDF5 expression, which can mildly affect cartilage repair. This leads to a moderately increased risk of osteoarthritis and hip dysplasia, with typical height.
What this genotype means: Slightly higher risk of osteoarthritis; Slightly higher risk of hip dysplasia; Typical height and bone size.
Gene function and biological role
Gene Function: GDF5 encodes growth differentiation factor 5, a signaling protein essential for skeletal development and joint maintenance. It belongs to the transforming growth factor-beta superfamily and is highly active during embryonic limb formation. In adults, GDF5 is crucial for the repair and homeostasis of articular cartilage. Reduced expression of this gene is a major risk factor for degenerative joint diseases.
Variant Impact: The rs143384 variant is located in the 5 prime untranslated region of the GDF5 gene. This single nucleotide change from G to A directly alters the promoter's transcriptional activity, with the A allele significantly reducing GDF5 expression. Lower levels of GDF5 protein lead to diminished cartilage repair and altered bone geometry. Consequently, this variant is widely studied for its profound effects on adult height, joint health, and skeletal structure.
Key Insight: The A allele of this variant reduces GDF5 expression, which simultaneously decreases adult height and increases the risk of joint degeneration.
Location: GDF5. Chromosome 20 · 20q11.22 · 35.4 Mb
Estimated prevalence by population
Global 34.9%; European 17.7%; African 78.6%; East Asian 8.1%; South Asian 33.1%; Americas 15.9%; Ashkenazi 26.4%; Finnish 19.5%; Middle Eastern 28.5%; Amish 27.7%.
Estimated GG genotype frequency.
Global 40.6%; European 48.8%; African 20.1%; East Asian 40.7%; South Asian 48.9%; Americas 47.9%; Ashkenazi 50.0%; Finnish 49.3%; Middle Eastern 49.8%; Amish 49.9%.
Estimated GA genotype frequency.
Global 24.5%; European 33.5%; African 1.3%; East Asian 51.3%; South Asian 18.0%; Americas 36.2%; Ashkenazi 23.6%; Finnish 31.1%; Middle Eastern 21.7%; Amish 22.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Bone, Joint & Connective Tissue Health
Osteoarthritis. Evidence: 8/10. Source: PMID 30374069. Lower Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 10/10. Source: PMID 20881960. Taller Stature.
Bone Size. Evidence: 10/10. Source: PMID 31053729. Larger Bone Size.
Rare Genetic Disorders
Connective Tissue Disorders
Hip Dysplasia. Evidence: 5/10. Source: PMID 30273415. Lower Risk.
Cardiovascular & Metabolic
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 10/10. Source: PMID 30575882. Typical.
Showing effects for A/A genotype
Osteoarthritis. Evidence: 8/10. Source: PMID 30374069. Higher Risk.
Height. Evidence: 10/10. Source: PMID 20881960. Shorter Stature.
Bone Size. Evidence: 10/10. Source: PMID 31053729. Smaller Bone Size.
Hip Dysplasia. Evidence: 5/10. Source: PMID 30273415. Higher Risk.
Waist-to-Hip Ratio. Evidence: 10/10. Source: PMID 30575882. Higher Ratio.
Showing effects for G/A genotype
Osteoarthritis. Evidence: 8/10. Source: PMID 30374069. Slightly Higher Risk.
Height. Evidence: 10/10. Source: PMID 20881960. Typical.
Bone Size. Evidence: 10/10. Source: PMID 31053729. Typical.
Hip Dysplasia. Evidence: 5/10. Source: PMID 30273415. Slightly Higher Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele ensures typical transcriptional activity of the GDF5 gene, which is vital for skeletal integrity. This optimal expression supports the continuous repair and maintenance of articular cartilage in major joints. Consequently, individuals with this genotype have a significantly lower risk of developing knee and hip osteoarthritis. They also exhibit a reduced susceptibility to developmental dysplasia of the hip. In terms of physical traits, this genotype is consistently associated with taller adult stature and larger bone dimensions, such as femoral neck size. The robust joint structure provides a strong foundation against age-related wear and tear. Regular physical activity further enhances this natural structural advantage.
Lower risk of osteoarthritis; Lower risk of hip dysplasia; Taller average height.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele leads to the lowest transcriptional activity of the GDF5 gene. This deficiency in GDF5 protein impairs the natural repair mechanisms of articular cartilage, making joints more vulnerable to wear. As a result, this genotype is strongly linked to an increased risk of developing severe osteoarthritis in the knees and hips. It is also associated with a higher incidence of developmental dysplasia of the hip. Furthermore, the reduction in GDF5-mediated bone growth correlates with a shorter average adult height and smaller bone dimensions. Managing joint health through physical activity and weight management is particularly important for individuals with this genetic profile. Early awareness allows for proactive lifestyle adjustments to protect joint integrity over time.
Higher risk of osteoarthritis; Higher risk of hip dysplasia; Shorter average height.
Sample genotype: GA (Heterozygous)
Having one G allele and one A allele results in intermediate levels of GDF5 expression in joint tissues. This slight reduction in GDF5 protein can mildly compromise the long-term maintenance of articular cartilage. Studies indicate that individuals with this heterozygous genotype face a moderately elevated risk of knee and hip osteoarthritis compared to those with the GG genotype. There is also a slight increase in the likelihood of experiencing developmental dysplasia of the hip. Anthropometric measurements, including adult height and bone size, generally fall into the typical range. Maintaining a healthy body weight and engaging in low-impact joint-strengthening exercises can help mitigate these mild genetic risks. Protecting the joints from excessive repetitive stress is a practical way to support long-term mobility.
Slightly higher risk of osteoarthritis; Slightly higher risk of hip dysplasia; Typical height and bone size.
Variants with shared genetic architecture
rs143383 · GDF5 Gene · Chr 20 · Osteoarthritis Risk
rs4252548 · IL11 Gene · Chr 19 · Osteoarthritis Risk
rs757608 · C17ORF82 Gene · Chr 17 · Height and Body Proportions
Content updated August 2026.
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