Scleroderma is an autoimmune disorder that can lead to hardening of the skin and other organs. Recent research has identified several genes that may play a role in the development of this condition.
Genes Associated with Scleroderma
The most commonly known gene associated with scleroderma is the HLA-DR2 gene. This gene is found in approximately 70% of those with scleroderma. Other genes, such as HLA-DR3, HLA-DQA1, and HLA-DQB1, have been found to be associated with the development of scleroderma in some individuals.
Genetic Mutations and Scleroderma
In addition to the genes listed above, researchers have identified a number of genetic mutations that may be associated with scleroderma. One such mutation is the mutation of the gene encoding transforming growth factor-β receptor II (TGFBR2). This mutation has been linked to the development of diffuse systemic scleroderma.
The Role of Environment in Scleroderma
In addition to genetic factors, environmental factors may also play a role in the development of scleroderma. Exposure to certain chemicals, such as silica, has been linked to the development of scleroderma in some individuals. Other environmental triggers such as exposure to certain medications, ultraviolet light, and infectious agents may also play a role in the development of scleroderma.
Conclusion
Scleroderma is a complex condition with multiple potential causes. While the exact cause of scleroderma is unknown, research has identified a number of genes and genetic mutations that may be associated with the development of this condition. In addition, environmental factors may also play a role in the development of scleroderma.