Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease
Year: 2023
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Antinuclear antibodies (ANA) are antibodies present in several autoimmune disorders. However, a large proportion of the general population (20%) also have a positive test; very few of these individuals will develop an autoimmune disease, and the clinical impact of a positive ANA in them is not known. Thus, we test the hypothesis that ANA + test reflects a state of immune dysregulation that alters risk for some clinical disorders in individuals without an autoimmune disease. METHODS: We performed high throughput association analyses in a case-control study using real world data from the de-identified electronic health record (EHR) system from Vanderbilt University Medical Center. The study population included individuals with an ANA titer ≥ 1:80 at any time (ANA +) and those with negative results (ANA-). The cohort was stratified into sub-cohorts of individuals with and without an autoimmune disease. A phenome-wide association study (PheWAS) adjusted by sex, year of birth, race, and length of follow-up was performed in the study cohort and in the sub-cohorts. As secondary analyses, only clinical diagnoses after ANA testing were included in the analyses. RESULTS: ) and other autoimmune diseases and complications. In the sub-cohort without autoimmune diseases, ANA + was associated with increased risk of Raynaud's syndrome (OR ≥ 2.1) and alveolar/perialveolar-related pneumopathies (OR ≥ 1.4) and decreased risk of hepatitis C, tobacco use disorders, mood disorders, convulsions, fever of unknown origin, and substance abuse disorders (OR ≤ 0.8). Analyses including only diagnoses after ANA testing yielded similar results. CONCLUSION: A positive ANA test, in addition to known associations with autoimmune diseases, Raynaud's phenomenon, and idiopathic fibrosing alveolitis related disorders, is associated with decreased prevalence of several non-autoimmune diseases.
Source: BMC Rheumatology
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,990
Funders: Arthritis National Research Foundation, Vanderbilt University, Lupus Research Alliance, Vanderbilt University Medical Center, Georgia Clinical and Translational Science Alliance, National Research Foundation, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Center for Research Resources, National Center for Advancing Translational Sciences
Awards: G1531600799, G1967470738, G2615776415, G2683268942, G3395468139, G3619590958, G364208108, Automated Storage and Retrieval of Biological Systems, G4410787187, BioVU Plasma Storage Equipment, G560889077, G5679716143, Comparative Safety of Pain Medications, G6764608945, The Vanderbilt Institute for Clinical and Translational Research (VICTR), Modular Automated -80C Sample Storage System, G9000043901, G9000054231, G9000168329, G949362299, G95160140
OpenAlex ID: W4385635237