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FAMILIAL SCLERODERMA—EVIDENCE FOR ENVIRONMENTAL VERSUS GENETIC TRIGGER
Journal article   Peer reviewed

FAMILIAL SCLERODERMA—EVIDENCE FOR ENVIRONMENTAL VERSUS GENETIC TRIGGER

C. O. Stephens, D. C. Briggs, J. Whyte, C. M. Artlett, A. B. Scherbakov, N. Olsen, N. G. Gusseva, N. J. Mchugh, P. J. Maddison, K. I. Welsh, …
Rheumatology (Oxford, England), v 33(12), pp 1131-1135
01 Dec 1994
DOI: https://doi.org/10.1093/rheumatology/33.12.1131
PMID: 8000741
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Environment Immunogenetics Scleroderma Systemic sclerosis
Families with more than one case of scleroderma are unusual. Four families each with two members (in one case monozygotic twins) with scleroderma (systemic sclerosis, SSc) were identified. Clinical, immunogenetic and autoantibody studies were carried out. Multicase SSc families cited in the literature were reviewed. Each family pair shared cutaneous subset of disease severity, and SSc-associated autoantibody. HLA typing showed two pairs shared an HLA-DR allele associated with scleroderma (DR3 or DR5), while one also had alleles reported in association with their SSc-specific autoantibody. Review of dates and ages of onset suggested that the timing of onset of scleroderma is more likely to have an environmental trigger than to be encoded genetically.

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Web of Science research areas
Rheumatology
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