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Scleroderma is caused by genetic and environmental factors. [ 4 ] [ 5 ] [ 17 ] [ 18 ] Mutations in HLA genes seem to play a crucial role in the pathogenesis of some cases; likewise silica , aromatic and chlorinated solvents, ketones , trichloroethylene , welding fumes, and white spirits exposure seems to contribute to the condition in a small ...
No clear cause for scleroderma and systemic sclerosis has been identified. Genetic predisposition appears to be limited, as genetic concordance is small; still, a familial predisposition for autoimmune disease is often seen. Polymorphisms in COL1A2 and TGF-β1 may influence severity and development of the disease.
The interaction between the genetic factors and environmental stimulus is what results in the disease phenotype. [19] There may be significant public health benefits in using gene by environment interactions to prevent or cure disease. [20] An individual's response to a drug can result from various gene by environment interactions. [19]
Researchers from Oxford Population Health used data from nearly 500,000 participants in the U.K. to assess the influence of 164 environmental factors and genetic risk scores for 22 age-related ...
Certain individuals are genetically susceptible to developing autoimmune diseases. This susceptibility is associated with multiple genes plus other risk factors. Genetically predisposed individuals do not always develop autoimmune diseases. Three main sets of genes are suspected in many autoimmune diseases. These genes are related to: [17]
Systemic sclerosis (progressive systemic scleroderma), a rare, chronic disease which affects the skin, and in some cases also blood vessels and internal organs. Tuberous sclerosis, a rare genetic disease which affects multiple systems.
The mechanisms of genetic and ecological inheritance are also different; whereas genetic inheritance depends on reproduction (e.g., sexual and asexual) where genes are transmitted in one direction from parent to offspring in the same species, the modified environment and its selective pressures caused by ecological inheritance can be handed ...
People with scleroderma overlap syndrome have symptoms of both systemic scleroderma and/or polymyositis and dermatomyositis: Scleroderma: a group of rare diseases that involve the hardening and tightening of the skin and connective tissues. Polymyositis: a rare inflammatory disease that causes muscle weakness affecting both sides of your body.
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