What you carry at this position in your DNA and what research says about it.
Osteoarthritis Risk: 8/10 evidence, 48 publications.
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Sample genotype (not yours): G/G
Typical Joint Risk and Slightly Taller Stature
Maintaining optimal GDF5 protein levels supports robust cartilage repair and joint health. This genotype is associated with a baseline risk of osteoarthritis and a slight increase in average height.
What this genotype means: Typical baseline risk of osteoarthritis; Slightly taller average height; Optimal cartilage-derived morphogenetic protein production.
Sample genotype (not yours): A/A
Increased Joint Risk and Slightly Shorter Stature
Carrying two copies of the A allele significantly reduces GDF5 expression, leading to a higher risk of osteoarthritis and joint issues. It is also associated with slightly shorter average height.
What this genotype means: Increased risk of knee, hip, and hand osteoarthritis; Slightly shorter average height; Higher susceptibility to lumbar disc degeneration.
Sample genotype (not yours): G/A
Slightly Increased Joint Risk and Typical Stature
Carrying one copy of the A allele slightly reduces GDF5 protein expression in joint tissues. This leads to a modest increase in the risk of osteoarthritis and developmental hip issues.
What this genotype means: Slightly increased risk of knee and hip osteoarthritis; Slightly higher susceptibility to developmental hip dysplasia; Modestly reduced GDF5 expression in cartilage.
Gene function and biological role
Gene Function: The GDF5 gene encodes growth differentiation factor 5, a crucial signaling protein belonging to the bone morphogenetic protein family. This protein plays a fundamental role in the development, maintenance, and repair of the skeletal system, particularly in joint cartilage, bone, and tendon tissues [1]. During embryonic development, it is highly active in the joint interzone, helping to define where bones separate and joints form [2]. In adults, it continues to support cartilage homeostasis and tissue repair following joint trauma [3]. Reduced levels of this protein can impair the body's ability to maintain healthy joint cartilage, leading to accelerated wear and tear.
Variant Impact: The rs143383 variant is located in the five prime untranslated region of the GDF5 gene, acting as a regulatory site that influences how much protein is produced. The A allele of this variant reduces the transcriptional activity of the GDF5 promoter sequence, leading to lower gene expression [4]. In joint tissues, this reduction in GDF5 expression can be as high as 27 percent, which directly compromises cartilage repair and joint integrity [5]. This functional change has been widely replicated across diverse populations, making it one of the most well-established genetic factors in joint degeneration [6]. Epigenetic factors such as DNA methylation also interact with this site to further modulate GDF5 expression levels [7].
Key Insight: A single nucleotide change in the regulatory region of GDF5 can reduce joint cartilage protein levels by over a quarter, significantly accelerating joint wear.
Location: GDF5. Chromosome 20 · 20q11.22 · 35.4 Mb
Origin Story: The derived A allele, which is associated with shorter stature and increased joint risk, is found at high frequencies in non-African populations, suggesting it may have been favored by positive selection in East Asians during the terminal Pleistocene to adapt to colder climates by reducing body size.
Estimated prevalence by population
Global 32.3%; European 14.2%; African 77.3%; East Asian 8.0%; South Asian 31.4%; Americas 14.1%; Ashkenazi 20.7%; Finnish 17.2%; Middle Eastern 24.0%; Amish 16.1%.
Estimated GG genotype frequency.
Global 39.9%; European 47.0%; African 21.2%; East Asian 40.6%; South Asian 49.3%; Americas 46.9%; Ashkenazi 49.6%; Finnish 48.6%; Middle Eastern 50.0%; Amish 48.0%.
Estimated GA genotype frequency.
Global 27.7%; European 38.8%; African 1.5%; East Asian 51.4%; South Asian 19.4%; Americas 39.0%; Ashkenazi 29.7%; Finnish 34.2%; Middle Eastern 26.0%; Amish 35.9%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Bone, Joint & Connective Tissue Health
Osteoarthritis. Evidence: 8/10. Source: PMID 30374069. Typical Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 9/10. Source: PMID 31562340. Slightly Taller.
Rare Genetic Disorders
Connective Tissue Disorders
Hip Dysplasia. Evidence: 4/10. Source: PMID 29797005. Typical Risk.
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 6/10. Source: PMID 37945903. Typical Risk.
Showing effects for A/A genotype
Osteoarthritis. Evidence: 8/10. Source: PMID 30374069. ~1.3x Increased Risk.
Height. Evidence: 9/10. Source: PMID 31562340. Slightly Shorter.
Hip Dysplasia. Evidence: 4/10. Source: PMID 29797005. ~1.4x Increased Risk.
Prostate Cancer. Evidence: 6/10. Source: PMID 37945903. Slightly Higher Risk.
Showing effects for G/A genotype
Osteoarthritis. Evidence: 8/10. Source: PMID 30374069. ~1.1x Increased Risk.
Height. Evidence: 9/10. Source: PMID 31562340. Typical Height.
Hip Dysplasia. Evidence: 4/10. Source: PMID 29797005. Slightly Higher Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Optimal expression of the GDF5 gene ensures that joint tissues receive adequate signaling for cartilage maintenance and repair [1]. Having two copies of the G allele prevents the reduction in promoter activity seen with the variant allele, preserving joint integrity [2]. Large-scale genetic studies confirm that this genotype correlates with a typical, baseline risk of developing osteoarthritis in the knees, hips, and hands [3]. Additionally, because GDF5 influences the growth of long bones, this genotype is associated with slightly taller stature and longer hip axis length [4]. Women with this genotype also show a lower risk of hand and knee osteoarthritis compared to carriers of the A allele [4]. Maintaining joint health through regular low-impact exercise and a balanced diet remains beneficial.
Typical baseline risk of osteoarthritis; Slightly taller average height; Optimal cartilage-derived morphogenetic protein production.
Sample genotype: AA (Homozygous)
Having two copies of the A allele causes a pronounced reduction in GDF5 promoter activity, leading to a significant decrease in protein levels within joint cartilage [1]. This deficit impairs the natural repair mechanisms of the joints, accelerating the degeneration of articular cartilage [2]. Meta-analyses show a 1.3-fold increased risk of developing osteoarthritis, particularly in the knees and hips [3]. This genotype is also linked to a higher risk of developmental dysplasia of the hip and lumbar disc degeneration [4]. Because GDF5 is involved in bone elongation, individuals with this genotype tend to have a slightly shorter stature and smaller bone size [5]. Proactive joint care, including low-impact physical activity and avoiding repetitive joint strain, is highly recommended.
Increased risk of knee, hip, and hand osteoarthritis; Slightly shorter average height; Higher susceptibility to lumbar disc degeneration.
Sample genotype: GA (Heterozygous)
A single copy of the A allele leads to a moderate reduction in the transcriptional activity of the GDF5 promoter [1]. This reduction translates to lower levels of growth differentiation factor 5 in joint cartilage, making the joints slightly more vulnerable to wear and tear over time [2]. Clinical studies indicate a modest 1.1-fold increase in the risk of developing knee or hip osteoarthritis [3]. There is also a slightly elevated susceptibility to developmental dysplasia of the hip, particularly in children [4]. Stature is typically unaffected or only minimally shorter compared to the G/G genotype. Joint-friendly lifestyle choices, such as maintaining a healthy weight and performing strength training, can help mitigate these modest risks.
Slightly increased risk of knee and hip osteoarthritis; Slightly higher susceptibility to developmental hip dysplasia; Modestly reduced GDF5 expression in cartilage.
Variants with shared genetic architecture
rs143384 · GDF5 Gene · Chr 20 · Joint and Bone Health
rs4252548 · IL11 Gene · Chr 19 · Osteoarthritis Risk
rs34811474 · ANAPC4 Gene · Chr 4 · Metabolic and Joint Health
The GDF5 SNP is associated with meniscus injury and function recovery in male Chinese soldiers.
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.
Content updated August 2026.
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