Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease
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...
| Autori principali: | , , , , , , , , |
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| Natura: | Articolo |
| Lingua: | English |
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BMC
2023-08-01
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| Serie: | BMC Rheumatology |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s41927-023-00349-4 |
| _version_ | 1827707725121847296 |
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| author | Jacy T. Zanussi Juan Zhao Wei-Qi Wei Gul Karakoc Cecilia P. Chung QiPing Feng Nancy J. Olsen C. Michael Stein Vivian K. Kawai |
| author_facet | Jacy T. Zanussi Juan Zhao Wei-Qi Wei Gul Karakoc Cecilia P. Chung QiPing Feng Nancy J. Olsen C. Michael Stein Vivian K. Kawai |
| author_sort | Jacy T. Zanussi |
| collection | DOAJ |
| description | 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 The cohort included 70,043 individuals: 49,546 without and 20,497 with an autoimmune disease, 26,579 were ANA + and 43,464 ANA-. In the study cohort and the sub-cohort with autoimmune disease, ANA + was associated (P ≤ 5 × 10–5) with 88 and 136 clinical diagnoses respectively, including lupus (OR ≥ 5.4, P ≤ 7.8 × 10–202) 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. |
| first_indexed | 2024-03-10T16:52:42Z |
| format | Article |
| id | doaj.art-280a134e6c6c4265ac4f1fd6e3ad3683 |
| institution | Directory Open Access Journal |
| issn | 2520-1026 |
| language | English |
| last_indexed | 2024-03-10T16:52:42Z |
| publishDate | 2023-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Rheumatology |
| spelling | doaj.art-280a134e6c6c4265ac4f1fd6e3ad36832023-11-20T11:15:42ZengBMCBMC Rheumatology2520-10262023-08-017111110.1186/s41927-023-00349-4Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune diseaseJacy T. Zanussi0Juan Zhao1Wei-Qi Wei2Gul Karakoc3Cecilia P. Chung4QiPing Feng5Nancy J. Olsen6C. Michael Stein7Vivian K. Kawai8Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical CenterDepartment of Biomedical Informatics, Vanderbilt University School of MedicineDepartment of Biomedical Informatics, Vanderbilt University School of MedicineDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical CenterVanderbilt Genetics Institute, Vanderbilt University School of MedicineDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical CenterDepartment of Medicine, Penn State Milton S. Hershey Medical CenterDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical CenterDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical CenterAbstract 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 The cohort included 70,043 individuals: 49,546 without and 20,497 with an autoimmune disease, 26,579 were ANA + and 43,464 ANA-. In the study cohort and the sub-cohort with autoimmune disease, ANA + was associated (P ≤ 5 × 10–5) with 88 and 136 clinical diagnoses respectively, including lupus (OR ≥ 5.4, P ≤ 7.8 × 10–202) 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.https://doi.org/10.1186/s41927-023-00349-4Antinuclear antibodiesPheWASDisease risk |
| spellingShingle | Jacy T. Zanussi Juan Zhao Wei-Qi Wei Gul Karakoc Cecilia P. Chung QiPing Feng Nancy J. Olsen C. Michael Stein Vivian K. Kawai Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease BMC Rheumatology Antinuclear antibodies PheWAS Disease risk |
| title | Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease |
| title_full | Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease |
| title_fullStr | Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease |
| title_full_unstemmed | Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease |
| title_short | Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease |
| title_sort | clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease |
| topic | Antinuclear antibodies PheWAS Disease risk |
| url | https://doi.org/10.1186/s41927-023-00349-4 |
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