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

作者: Carol Feghali-Bostwick , Thomas A. Medsger , Timothy M. Wright

DOI: 10.1002/ART.11173

关键词:

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

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