For example, c.11107G>A may be involved in the pathogenesis of systemic sclerosis associated with autoimmune thyroiditis.[42] Yet, the association was not observed in our patients 7 with the same single nucleotide polymorphisms (data not shown), suggesting environmental factors as well as other genetic elements besides the AIRE gene modify the variety of phenotypes in APS-1 patients. Here, AIRE is linked to systemic sclerosis.