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Genetics in osteoarthritis


Osteoarthritis (OA) is a common degenerative joint disease caused by the destruction of the cartilage and, eventually, bone. Osteoarthritis is considered to be genetically predisposed.  The disease progression leads to a significant disability among the elderly. It should be noted that OA prevalence rises with age and is very common among those older than 60 years, albeit some features of the OA are seen on X-ray of the large, weight bearing joints as early as at one’s 40-ies. Besides, women are also more likely to develop the disorder.

Diagnosis Osteoarthritis

Osteoarthritis is a disease of many faces and has many variants and forms with pain of different severity, different extent of cartilage loss and different quantity of the affected joints (generalized/non-generalized forms).

Role of genetics in osteoarthritis

It is believed that osteoarthritis is a heritable disease with multiple genes involved at some point with an estimated heritability of between 30 and 60%, although it should be noted that genetic features are associated only with an increased risk of developing the disease and genetic predisposition rather than imply the inevitable disease occurrence. However, it should be noted that role of genetic factors is different in various types of the disease. There is no single gene responsible for the development of OA. On the other hand, the presence of some gene or mutation does not define the disease occurrence – disease develops in the course of time as the result of complex gene-environment interactions. Knowing your  risks may help you to take measures and prevent or postpone disease progression.

There was investigated a strong relation of generalized nodal osteoarthritis with multiple Heberden’s nodes (swellings of the distal interphalangeal joints – the goints closer to the fingertips) and genetics – namely, this type of osteoarthritis is more common in perimenopausal women and, ergo, sometimes also called a “menopausal arthritis” and may be inherited as autosomal-dominant pattern.

Furthermore, there are also rare forms of young-onset osteoarthritis, which may be caused by some mutations and are known as monogenic disorders.

Genes related to OA

All the genes responsible for the development of osteoarthritis are involved in the development and formation of the tissues and cells which comprise the cartilages, joints and/or bones. Consequently, their mutations and abnormalities/or variants influence on the structure of the skeleton and makes it prone to degeneration and destruction.

The following genes were linked to osteoarthritis development risk.

  • GDF5 (growth differentiation factor 5) gene mutations – this gene is implicated in the development of cartilage, joints, brown fat, teeth and other tissues and cells;
  • Mutations of the COL2A1 gene, which encodes the production of type II collagen – a substance  which builds up a cartilage;
  • MCF2L (MCF.2 Cell Line Derived Transforming Sequence Like) gene variant is associated with osteoarthritis risk;
  • ASPN (asporin) encodes the cartilage protein synthesis;
  • FRZB (frizzled-related protein) gene is known to regulate the bone development. This gene mutations were linked to female susceptibility to OA;
  • PTGS2 (prostaglandin-endoperoxide synthase 2) gene regulates inflammatory responses;
  • NCOA3 (nuclear receptor coactivator 3);
  • DOT1L (Disruptor of telomeric silencing 1-like);
  • Susceptibility to knee osteoarthritis is also related to any of the genes located in the 7q22 region (locus at chromosome 7).

Our genetic DNA test will help you to find out whether you are genetically predisposed to osteoarthritis or not. With this knowledge you can assess your risks, detect the disease before it becomes symptomatic, modify your lifestyle or treatment to prevent or stop the disorder progression.

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