The genetics of systemic sclerosis |
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Authors: | Randall W. Johnson Monty B. Tew Frank C. Arnett |
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Affiliation: | (1) Department of Internal Medicine, University of Texas Health Science Center, 6431 Fannin MSB 5.260, 77030 Houston, TX, USA |
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Abstract: | The etiopathogenesis of systemic sclerosis (SSc) is unclear. With no definitive evidence supporting an environmental cause, recent attention has focused on genetic factors. Familial clustering and ethnic influences have been demonstrated. Human leukocyte antigen (HLA) associations exist but are more related to the presence of particular autoantibodies rather than to the disease. In addition, no single major histocompatibility complex (MHC) allele predisposes to SSc in all ethnic groups. The role of microchimerism in SSc is a novel yet unproven hypothesis that may be related to intergenerational HLA compatibility. Recent studies investigating polymorphisms in genes coding for extracellular matrix proteins and cell-signaling molecules implicate non-MHC areas in SSc pathogenesis. The data reviewed suggest that SSc is a multigenic complex disorder. |
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