EPIDEMIOLOGIC CLINICAL GENETIC FEATURES OF SYSTEMIC SCLEROSIS IN TWINS

$3,034M01FY2000RRNIH

University Of Pittsburgh At Pittsburgh, Pittsburgh PA

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Abstract

Systemic sclerosis (SSc) or scleroderma is an autoimmune connective tissue disease of unknown etiology. Twins provide a unique opportunity to assess the role of inherited vs. acquired genetic/environmental factors in disease development and provide the ideal controls for examining changes in gene expression at the tissue level. The aims of the proposed study are: (1) examination of a cohort of twins with SSc to determine concordance for disease; (2) confirmed pairs of twins with SSc (monozygotic and dizygotic, concordant and discordant) will be further analyzed by a detailed physical and laboratory examination (including cytogenetic analysis on peripheral blood and dermal fibroblasts, analysis of differential gene expression in dermal fibroblasts).

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