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What role do genetics play in rheumatoid arthritis?

Rheumatoid arthritis falls into a very broad group of pathologies called autoimmune diseases. These chronic conditions are characterized by the immune system attacking its own tissues and organs, which can occur anywhere in the body. 

The exact cause of autoimmune diseases is still unknown, but they are believed to be caused by a combination of genetic and environmental factors. Genome-wide association studies (GWAS) have identified a large number of genes related to these diseases, so it’s possible to know the relationship between rheumatoid arthritis and genetics.

In this post, we explain what it consists of, what its symptoms are, how genetics influences rheumatoid arthritis, and how it affects the treatments and prevention of this autoimmune disease.

 

Symptoms of rheumatoid arthritis

Symptoms of rheumatoid arthritis may vary depending on the person. Among the most common are the following [1]:

  • Joint swelling: usually affecting wrists, fingers, toes, elbows, shoulders, hips, knees and ankles.
  • Morning stiffness: difficulty in starting movements upon awakening.
  • Progressive joint deformity: due to constant inflammation, bones, ligaments and surrounding tendons may be damaged.
  • Reduced joint mobility: difficulty in performing everyday tasks may lead to disability.

Other, less common symptoms, include fatigue, neck pain, tingling in the extremities, fever for no apparent reason, chest or flank pain, red or itchy eyes, dry mouth, and skin spots or bumps [1].

 

Difference between arthritis and rheumatoid arthritis

Treatments for rheumatoid arthritis: options for controlling pain and improving mobility

Today, thanks to the evolution of science and the study of genetics and its relationship to rheumatoid arthritis, successful treatments, both pharmacological and non-pharmacological, are underway. Non-pharmacological treatments help to feel better and gain in quality of life, and are the following [4]:

  • Regular exercise. Consistent sports practice not only helps the patient to feel better, but can also increase flexibility and joint function.
  • Rest, especially during rheumatoid arthritis flares, and rest at night. A balance between rest and activity is essential to combat the symptoms of the disease.
  • Physiotherapeutic treatment, which helps to improve the general physical condition if carried out in a personalized manner.
  • Use of technical and technological aids for daily tasks, such as instruments or products made for joint protection, which is essential to achieve greater autonomy and independence.

 

As for drug treatments we find [1]:

  • Nonsteroidal anti-inflammatory drugs (NSAIDs) and glucocorticoids.
  • Disease-modifying drugs (DMARDs), which include immunosuppressants and antirheumatics.
  • Biologic drugs for patients who do not respond to previous treatment.
  • Prostheses [4]. In some cases, replacement of certain joints, mainly the hip or knees, is necessary.
rheumatoid arthritis treatment

Rheumatoid arthritis and genetics

It’s been found that there’s a strong connection between rheumatoid arthritis and genetics. It’s estimated that twenty to forty percent of a person’s chance of developing this disease is inherited [5]. 

There are over one hundred identified genes that appear to influence the increased risk of rheumatoid arthritis, although it’s believed that a person must have mutations in more than one of these genes for the risk to be increased [5]. A mutation in DNA is a change in the sequence of nucleotides (basic units of DNA), and its consequences range from having no discernible effect to causing genetic disease, or increasing or decreasing the predisposition to develop a certain pathology. On the other hand, environmental exposure and infections also seem to play a fundamental role.

Genetic research has made progress in the treatment and understanding of this disease. Today, thanks to genetic tests, it is already possible to know in advance whether those mutations related to rheumatoid arthritis are in our DNA. With the 24Genetics health test, for example, you can find out your genetic predisposition to develop rheumatoid arthritis, as well as more than 200 other diseases. Check what they are and all the information you can get with a simple saliva sample, by clicking here

 

Bibliography

[1] Rheumatoid arthritis – Dr. María José Cuadrado Lozano. Director Servicio de Reumatología – Clínica Universidad de Navarra [accessed Jan. 2023] Available at: https://www.cun.es/enfermedades-tratamientos/enfermedades/artritis-reumatoide

[2] Rheumatoid arthritis – Mayo Clinic [published Jul. 2021; accessed Jan. 2023] Available at: https://www.mayoclinic.org/es-es/diseases-conditions/rheumatoid-arthritis/symptoms-causes/syc-20353648

[3] Rheumatologist explains the difference between rheumatoid arthritis and degenerative arthritis – Sebastián Salguero and Dr. Noelia Rodríguez – Medicina y Salud Pública [published Jun. 2022; accessed Jan. 2023] Available at: https://medicinaysaludpublica.com/noticias/reumatologia/reumatologa-explica-la-diferencia-entre-la-artritis-reumatoide-y-la-artritis-degenerativa/3056

[4] Treatment of Rheumatoid Arthritis – Portal Clínic – Universitat de Barcelona [published Jan. 2021; accessed Jan. 2023] Available at: https://www.clinicbarcelona.org/asistencia/enfermedades/artritis-reumatoide/tratamiento

[5] Genetic and environmental factors appear to play a role in increased risk for rheumatoid arthritis – Dr. John Davis III, Mayo Clinic Rheumatology in Rochester, Minnesota [published Apr. 2015; accessed Jan. 2023] Available at: https://newsnetwork.mayoclinic.org/es/2015/04/08/factores-geneticos-y-ambientales-parecen-desempenar-una-funcion-en-el-riesgo-mayor-para-artritis-reumatoide/

Written by Manuel de la Mata

Geneticist

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