Epigenetic Profiling of Multiple Cell and Tissue Types in Sjögren's Syndrome

-
Investigator: Lindsey A. Criswell, MD, MPH
Sponsor: Sjogren's Syndrome Foundation

Location(s): China; Japan; India; Denmark; United Kingdom; Argentina

Description

Although the cause of Sjögren’s Syndrome (SS) remains unknown, it is clearly complex with important contributions from both genetic and environmental factors. New molecular genetic assays offer an extraordinary opportunity to accelerate progress in the identification of epigenetic mechanisms for complex human autoimmune diseases such as SS. Epigenetic modifications, such as methylation of the 5’ carbon of cytosine which occurs in the context of CpG dinucleotides, do not affect the genetic sequence; however, they do play a critical role in gene regulation. Methylation of DNA can be detected on a large scale basis using recently developed high-throughput technologies. We propose to apply these assays to a very well characterized collection of SS cases and controls developed by the Sjögren’s International Collaborative Clinical Alliance. The identification of unique epigenetic profiles in SS will significantly transform our understanding of SS etiology, and may lead to more effective approaches to prevention, diagnosis and treatment.