Genetic, genomic and epigenetic studies as tools for elucidating disease pathogenesis in primary Sjögren's syndrome
Miceli-Richard, C.; Criswell, L.A.
Expert Review of Clinical Immunology 10(4): 437-444
ISSN/ISBN: 1744-8409 PMID: 24646085 DOI: 10.1586/1744666x.2014.901888
Primary Sjögren's syndrome (pSS) is characterized by lymphoid infiltration of lacrimal and salivary glands leading to xerophthalmia and xerostomia. pSS is a complex disease involving both genetic and environmental risk factors. Technological advances over the past 10 years have revolutionized genetics and genomics research enabling high-throughput characterization and analysis of DNA and RNA in patient samples on a genome-wide scale. Further, application of high-throughput methods for characterization of epigenetic variation, such as DNA methylation status, is increasingly being applied to AID populations and will likely further define additional risk factors for disease risk and outcome. Main results obtain in pSS through these various approaches are reviewed here.