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Scleroderma – Is It Genetic?

Doctors do not know exactly what causes scleroderma. Research suggests it develops from a combination of genetic and environmental factors.

While some people may inherit genes that could make them more likely to develop scleroderma, there is no single gene known to cause the disease. Genes that have been associated with systemic sclerosis have also been associated with other diseases

Can Scleroderma Run in Families?

Family history of scleroderma is uncommon. Studies show that the risk of developing scleroderma in a first-degree relative remains low at only 1.1-1.6%, even when another family member has the disease.1 It is very unlikely that the disease will be passed from parent to child.

However, researchers have found that families with one autoimmune disease may sometimes have a history of other autoimmune conditions, such as lupus, rheumatoid arthritis, or Sjögren’s disease.

Are There Different Genetic Risk Factors?

Researchers have identified certain genes involved in the immune system that may increase the risk of developing scleroderma. Many of these are connected to how the body recognizes and responds to trauma.

Some genetic traits linked to scleroderma are found more often in people of African ancestry.2 These genetic differences may explain why people of African ancestry are affected by scleroderma more frequently and with greater severity.

What Can Trigger Scleroderma?

Genes alone do not appear to cause scleroderma. Researchers believe that environmental triggers may activate the disease in people who are already genetically at risk. Silica dust exposure is the only environmental risk factor with confirmed evidence of triggering systemic sclerosis, but others are suspected.3 It is also possible that cancer could be a trigger for a subset of people living with systemic sclerosis.

Most people living with scleroderma do not have a clearly recognized trigger for their disease.

Helping Unlock the Genetics of Scleroderma

The GRASP (Genome Research in African American Scleroderma Patients) Project is the largest studies of its kind, helping researchers better understand why African Americans are more likely to develop scleroderma and experience more severe symptoms.

By studying genetic and biological basis for scleroderma, GRASP is advancing knowledge that could lead to earlier diagnosis, more personalized treatments, and better outcomes for all people living with scleroderma.

Learn About the GRASP Project

What Does This Mean for Me or My Family?

Having scleroderma—or having a family member with scleroderma—does not mean your children or relatives will develop the disease. For most families, the risk remains low.

Research into the genetics of scleroderma continues to grow, helping scientists better understand why the disease develops and how new treatments may be developed in the future.

Sources:
  1. Kuo CF, Luo SF, Yu KH, See LC, Zhang W, Doherty M. Arthritis Res Ther. 2016;18(1):231.
  2. Orvain C, Assassi S, Avouac J, Allanore Y. Curr Opin Rheumatol. 2020;32(6):505-514.
  3. Truchetet ME, Brembilla NC, Chizzolini C. Clin Rev Allergy Immunol. 2023;64(3):262-283.