Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies. Academic Article uri icon

Overview

abstract

  • OBJECTIVE: To examine concordance for systemic sclerosis (SSc) in monozygotic (MZ) and dizygotic (DZ) twins. METHODS: MZ and DZ twins were recruited nationwide. Zygosity was confirmed by DNA fingerprint analysis. The presence of antinuclear antibodies (ANAs) was determined using indirect immunofluorescence with HEp-2 cells as substrate. Identification of SSc-associated serum autoantibodies was performed by immunoprecipitation and double immunodiffusion. Major histocompatibility complex class II alleles were identified by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: Concordance for SSc was found to be similar in MZ and DZ twins. Overall concordance for SSc was low in the twins (4.7%). Concordance for the presence of ANAs was significantly higher in MZ twins compared with DZ twins. SSc-associated serum autoantibodies occurred exclusively in patients with SSc. The distribution of SSc-associated serum autoantibodies was similar to that observed in our large database of SSc patients. Increased HLA allele sharing was detected in DZ twins, irrespective of disease concordance. CONCLUSION: These results indicate that inherited genetic factors are not sufficient to explain the development of SSc. Rather, these data indicate that inheritance may play a role in the development of serum autoantibodies in the "healthy" twin sibling of an SSc patient.

publication date

  • July 1, 2003

Research

keywords

  • Antibodies, Antinuclear
  • Scleroderma, Systemic

Identity

Scopus Document Identifier

  • 0038004795

Digital Object Identifier (DOI)

  • 10.1002/art.11173

PubMed ID

  • 12847690

Additional Document Info

volume

  • 48

issue

  • 7