Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus

摘要: Monozygotic (MZ) twins are partially concordant for most complex diseases, including autoimmune disorders. Whereas phenotypic concordance can be used to study heritability, discordance suggests the role of non-genetic factors. In environmentally driven epigenetic changes thought contribute their etiology. Here we report first high-throughput and candidate sequence analyses DNA methylation investigate disease in twins. We a cohort MZ discordant three diseases whose clinical signs often overlap: systemic lupus erythematosus (SLE), rheumatoid arthritis, dermatomyositis. Only SLE featured widespread status significant number genes. Gene ontology analysis revealed enrichment categories associated with immune function. Individual confirmed existence expression genes relevant pathogenesis. These occurred parallel global decrease 5-methylcytosine content that was concomitantly accompanied levels ribosomal RNA genes, although no repetitive sequences were found. Our findings not only identify potentially markers characterization patients but also support notion may critical manifestations disease.