What are the Genetic Markers for Rheumatoid Arthritis?

It wasn’t so long ago that it was considered science fiction to dream about clones, advanced genetics and the the possibility in the future of living centuries.

Now it seems only a few years later, many of those fantasies are becoming a reality, and we are now living in a world where genetic testing alone is enough to detect susceptibility to various diseases and health conditions. We are not only detecting genetic disease but also genetic susceptibility to certain diseases, and that’s what is meant when you hear about “genetic markers” in the news.


dna test Joint pain Arthritis


There are studies about genetic susceptibility in almost any field or disease, but not all of them are trustworthy. However, certain conditions have a very strong genetic component and make up perfect candidates to detect their genetic markers. Rheumatoid arthritis is one of them.



Are you at risk? Genetic markers for Rheumatoid Arthritis

Rheumatoid arthritis is a disease that doesn’t need much introduction. It is one of the most feared musculoskeletal disorders, an inflammatory condition in the articulations that leads to progressive degeneration and loss of function. There are many risk factors for rheumatoid arthritis, and genetic predisposition is one of them.

If we look at the scientific evidence, the majority of genes associated with an increased risk are related to something called human leukocyte antigen (HLA). This is a group of genes found in the short arm of chromosome 6, and they are all associated with the immune function.

Interestingly enough, HLA genes are the common ground in various autoimmune diseases, including Grave’s disease, Systemic Erythematous Lupus, and type 1 diabetes mellitus.

Science has uncovered various HLA genes associated with rheumatoid arthritis, but one of them has the absolute winning hand. It is known as the shared epitope of rheumatoid arthritis, located in the allele HLA-DRB1. By just coding a sequence of 5 amino acids, this gene is probably the one responsible for 80% of cases of rheumatoid arthritis.

A remaining 20% of rheumatoid arthritis patients do not have this gene but may have many others, including a protein called anti-cyclic citrullinated peptide (or anti-CPP), and certain enzymes that carry a 2-fold risk of developing rheumatoid arthritis in the future.

Should I take the test?

Genetic testing for rheumatoid arthritis is a good option if you have any type of doubt and want to make sure you’re not a susceptible individual. It is especially recommended for patients with a family history of rheumatoid arthritis, and you can either run a test through your doctor or just order a simple genetic test kit to do it at home.

Doing it in the comfort of your own home is convenient and stress-free, and you can confirm your results with your doctor afterwards. Thus, it will be helpful if you have a family member with recently diagnosed rheumatoid arthritis and want to find out if you’re carrying the same genetic predisposition.


But even if you don’t have any mention of rheumatoid arthritis in your family, performing a test is an excellent option to evaluate your risk and act accordingly. As we mentioned in the previous section, genetic changes in the HLA complex are associated with a myriad of autoimmune diseases, including celiac disease, type 1 diabetes, and myasthenia gravis. Recent studies show there’s a crossed risk when it comes to autoimmune diseases in your family.

Additionally, there are environmental factors and other elements increasing the risk of rheumatoid arthritis, and they can be addressed if you detect a genetic predisposition.

In a nutshell, you have nothing to lose by taking a test for genetic markers of rheumatoid arthritis, especially if you have a persistent doubt in your mind about this particular condition.



Is Arthritis Genetic


What if my test turns out positive?

Taking a genetic test for rheumatoid arthritis does not mean you will get the disease with certainty. These tests are not intended to predict the outcomes in individual cases.

Instead, they reveal a lower or higher probability to suffer a given health condition. Thus, if you do have genetic markers for rheumatoid arthritis, the first thing to do is examining which one turned out to be positive and how much that increases your risk of rheumatoid arthritis. The second step would be reducing your environmental risk as much as possible.

We can test for genetic markers, but there’s no way to change our genetic predisposition. What we can do is reducing the risk by adopting a series of lifestyle approaches that will balance the risk to an acceptable level. Thus, do not be afraid and talk to your doctor if you took a home test. He would need to confirm his findings with another test to rule out any false positives, and then he would give you particular recommendations adapted to you.

The following recommendations can be applied for anyone with a higher risk for rheumatoid arthritis, and it is a good starting point to prevent the onset of this disease:

  • Do not smoke: It is the very first lifestyle modification because it is probably the most important. If you smoke with a genetic predisposition, your chance of rheumatoid arthritis is 40 times that of ordinary people who don’t smoke.
  • Keep a healthy weight: Obesity is another risk factor you can change starting today. Be physically active and eat healthily. Include fish instead of red meats in your meals to increase your daily omega 3, which has important anti-inflammatory potential.
  • Moderate coffee consumption: Excessive coffee intake is associated with an increased risk of rheumatoid arthritis. We are not telling you to quit but reduce coffee intake if you’re taking too much.
  • Look after your oral health: Patients with periodontitis have a higher incidence of rheumatoid arthritis, and it can be an additional risk factor you can avoid by taking care of your dental hygiene and visiting your dentist regularly.



Yarwood, A., Huizinga, T. W., & Worthington, J. (2014). The genetics of rheumatoid arthritis: risk and protection in different stages of the evolution of RA. Rheumatology55(2), 199-209.

Viatte, S., Plant, D., Bowes, J., Lunt, M., Eyre, S., Barton, A., & Worthington, J. (2012). Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. Annals of the rheumatic diseases71(12), 1984-1990.

Paul, B. J., Kandy, H. I., & Krishnan, V. (2017). Pre-rheumatoid arthritis and its prevention. European journal of rheumatology4(2), 161.

Holoshitz, J. (2010). The rheumatoid arthritis HLA-DRB1 shared epitope. Current opinion in rheumatology22(3), 293.

Frisell, T., Saevarsdottir, S., & Askling, J. (2016). Family history of rheumatoid arthritis: an old concept with new developments. Nature Reviews Rheumatology12(6), 335.

Kuo, C. F., Grainge, M. J., Valdes, A. M., See, L. C., Yu, K. H., Shaw, S. W., … & Doherty, M. (2017). Familial aggregation of rheumatoid arthritis and co-aggregation of autoimmune diseases in affected families: a nationwide population-based study. Rheumatology56(6), 928-933.

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