Is osteoarthritis (OA) hereditary?

Is Osteoarthritis Hereditary?

Yes, osteoarthritis (OA) has a significant hereditary component, with inheritance being identified as an immutable risk factor for developing the condition. 1

Genetic Influence on Osteoarthritis

• Family history, particularly first-degree relatives with OA, increases risk with an odds ratio of 2.57 (95% CI 1.86 to 3.55) according to multiple studies 1
• Twin studies have estimated the heritability of OA to be as high as 65%, indicating a strong genetic component 2
• Recent research shows that any-site OA and hip OA have among the highest heritability (50% and 64% respectively) compared to other rheumatic/musculoskeletal diseases 3
• Genetic factors are classified as "immutable" risk factors for OA, alongside age, female gender, and congenital malformations 1

Maternal vs. Paternal Inheritance Patterns

• Maternal OA consistently increases the risk of offspring developing OA across different joint locations and severities 4
• Having a mother with OA particularly increases the risk in daughters (RR 1.13-1.44) compared to sons (RR 1.16-1.31) 4
• Paternal OA shows a weaker association with offspring OA development 4
• This suggests that OA heredity may be linked to maternal-specific genes and/or factors such as the fetal environment 4

Genetic Risk Compared to Other Risk Factors

• While genetics plays an important role, modifiable risk factors also significantly contribute to OA development 1
• The odds ratio for developing end-stage knee OA attributable to genetics (OR 1.12) is lower than that associated with BMI (OR 1.81) and age (OR 2.38) 5
• Genetic contribution to severe OA appears greater in younger patients (under 60 years) compared to older patients 5

Types of OA with Genetic Associations

• Hand OA shows strong genetic associations, with specific genes like ADAM12 and ESR1 showing significant associations in women 6
• Erosive hand OA and nodal OA may have different genetic underpinnings despite sharing some genetic risk factors 1
• Polyarticular hand OA increases the risk of developing knee OA (OR 3.0) and hip OA (OR 3.25), suggesting shared genetic susceptibility 1

Clinical Implications

• Understanding the genetic component of OA helps identify individuals at higher risk who might benefit from early preventive measures 7
• While genetic factors cannot be modified, addressing modifiable risk factors like obesity, muscle weakness, and joint biomechanics can help reduce symptoms and disability 1
• Genetic testing is not currently recommended for routine clinical diagnosis of OA 1

Risk Factor Categories for OA

• Immutable factors: Age, gender (female > male), inheritance, congenital malformations 1
• Potentially modifiable factors: Trauma, reduced proprioception, poor joint biomechanics 1
• Modifiable factors: Obesity, muscle weakness, heavy physical activity, inactivity 1

Understanding the hereditary nature of OA is important for risk assessment, but focus should be placed on addressing modifiable risk factors to reduce symptoms and improve outcomes in patients with genetic predisposition to the disease 1.