Genetic Influences on Knee Osteoarthritis Susceptibility
Summary
Knee osteoarthritis is a multifactorial disorder in which genetic predisposition combines with mechanical stress and ageing to determine individual risk. Heritability estimates from twin and family studies suggest that up to 50 per cent of variation in susceptibility may be explained by inherited factors. Early genome-wide association studies identified loci in genes involved in cartilage extracellular matrix, such as GDF5, COL2A1 and other structural components. More recently, large-scale analyses have uncovered additional common variants in inflammatory pathways and growth factor signalling, highlighting interleukins, tumour necrosis factor and transforming growth factor-α as contributors. Polygenic risk scores integrating dozens of low-penetrance variants show promise for stratifying subjects at high risk, while functional studies of candidate single-nucleotide polymorphisms (SNPs) have begun to reveal how specific alleles influence chondrocyte metabolism, subchondral bone remodelling and synovial inflammation. Emerging work on gene–gene interactions suggests that combinations of alleles may amplify or mitigate risk, raising the prospect of personalised intervention strategies based on an individual’s genetic profile.
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Genetic Influences on Knee Osteoarthritis Susceptibility publication trend
The graph below shows the total number of articles in genetic influences on knee osteoarthritis susceptibility across all publications each year (not limited to Nature Index journals).
Technical terms
Single-nucleotide polymorphism (SNP): A variation at a single base position in the DNA sequence among individuals.
Haplotype: A combination of alleles at adjacent loci on the same chromosome that are inherited together.
Gene–gene interaction: The phenomenon whereby the effect of one genetic variant on disease risk depends on the presence of variants at other loci.
References
- Genetic polymorphisms of interleukin-16 in Egyptian patients with primary knee osteoarthritis. Egyptian Rheumatology and Rehabilitation (2023).
- The role of polymorphism of candidate genes in the development of knee osteoarthritis in men of the Central Chernozem region of Russia. Siberian Journal of Clinical and Experimental Medicine (2023).
- Genetic association between TNF-α G-308A and osteoarthritis in Asians: A case–control study and meta-analysis. PLOS ONE (2021).
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