In this study, the authors applied a robust method of genomic analysis called Transmission Disequilibrium Testing (TDT), which is historically used for analyzing single genes across the entire genome of lupus patients. The study is family-based, meaning healthy parents of patients with lupus were included as controls. The authors demonstrated that the genomes of people with early-onset lupus have more rare variants, which may contribute to disease.
What is exciting about this article?
This study is exciting because the researchers were able to identify several novel rare variants not yet reported in lupus. This study is the first to use a family-based method across the entire genome to find variants important in lupus. Additionally, this study included a childhood-onset lupus population that was diverse, both in genetic ancestry and geographic location.
Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.