Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records
Objective: The significance of non–rheumatoid arthritis (RA) autoantibodies in patients with RA is unclear. The aim of this study was to assess associations of autoantibodies with autoimmune risk alleles and with clinical diagnoses from the electronic medical records (EMRs) among RA cases and non-R...
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| Format: | Article |
| Language: | en_US |
| Published: |
Wiley Blackwell
2014
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| Online Access: | http://hdl.handle.net/1721.1/90919 https://orcid.org/0000-0001-8411-6403 |
| _version_ | 1811078709689450496 |
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| author | Liao, Katherine P. Kurreeman, Fina Li, Gang Duclos, Grant Murphy, Shawn N. Guzman, Raul Cai, Tianxi Gupta, Namrata Gainer, Vivian Schur, Peter Cui, Jing Denny, Joshua C. Szolovits, Peter Churchill, Susanne Kohane, Isaac Karlson, Elizabeth W. Plenge, Robert M. |
| author2 | Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science |
| author_facet | Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science Liao, Katherine P. Kurreeman, Fina Li, Gang Duclos, Grant Murphy, Shawn N. Guzman, Raul Cai, Tianxi Gupta, Namrata Gainer, Vivian Schur, Peter Cui, Jing Denny, Joshua C. Szolovits, Peter Churchill, Susanne Kohane, Isaac Karlson, Elizabeth W. Plenge, Robert M. |
| author_sort | Liao, Katherine P. |
| collection | MIT |
| description | Objective:
The significance of non–rheumatoid arthritis (RA) autoantibodies in patients with RA is unclear. The aim of this study was to assess associations of autoantibodies with autoimmune risk alleles and with clinical diagnoses from the electronic medical records (EMRs) among RA cases and non-RA controls.
Methods:
Data on 1,290 RA cases and 1,236 non-RA controls of European genetic ancestry were obtained from the EMRs of 2 large academic centers. The levels of anti–citrullinated protein antibodies (ACPAs), antinuclear antibodies (ANAs), anti–tissue transglutaminase antibodies (AGTAs), and anti–thyroid peroxidase (anti-TPO) antibodies were measured. All subjects were genotyped for autoimmune risk alleles, and the association between number of autoimmune risk alleles present and number of types of autoantibodies present was studied. A phenome-wide association study (PheWAS) was conducted to study potential associations between autoantibodies and clinical diagnoses among RA cases and non-RA controls.
Results:
The mean ages were 60.7 years in RA cases and 64.6 years in non-RA controls. The proportion of female subjects was 79% in each group. The prevalence of ACPAs and ANAs was higher in RA cases compared to controls (each P < 0.0001); there were no differences in the prevalence of anti-TPO antibodies and AGTAs. Carriage of higher numbers of autoimmune risk alleles was associated with increasing numbers of autoantibody types in RA cases (P = 2.1 × 10[superscript −5]) and non-RA controls (P = 5.0 × 10[superscript −3]). From the PheWAS, the presence of ANAs was significantly associated with a diagnosis of Sjögren's/sicca syndrome in RA cases.
Conclusion:
The increased frequency of autoantibodies in RA cases and non-RA controls was associated with the number of autoimmune risk alleles carried by an individual. PheWAS of EMR data, with linkage to laboratory data obtained from blood samples, provide a novel method to test for the clinical significance of biomarkers in disease. |
| first_indexed | 2024-09-23T11:04:13Z |
| format | Article |
| id | mit-1721.1/90919 |
| institution | Massachusetts Institute of Technology |
| language | en_US |
| last_indexed | 2024-09-23T11:04:13Z |
| publishDate | 2014 |
| publisher | Wiley Blackwell |
| record_format | dspace |
| spelling | mit-1721.1/909192022-09-27T16:56:11Z Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls Liao, Katherine P. Kurreeman, Fina Li, Gang Duclos, Grant Murphy, Shawn N. Guzman, Raul Cai, Tianxi Gupta, Namrata Gainer, Vivian Schur, Peter Cui, Jing Denny, Joshua C. Szolovits, Peter Churchill, Susanne Kohane, Isaac Karlson, Elizabeth W. Plenge, Robert M. Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science Szolovits, Peter Objective: The significance of non–rheumatoid arthritis (RA) autoantibodies in patients with RA is unclear. The aim of this study was to assess associations of autoantibodies with autoimmune risk alleles and with clinical diagnoses from the electronic medical records (EMRs) among RA cases and non-RA controls. Methods: Data on 1,290 RA cases and 1,236 non-RA controls of European genetic ancestry were obtained from the EMRs of 2 large academic centers. The levels of anti–citrullinated protein antibodies (ACPAs), antinuclear antibodies (ANAs), anti–tissue transglutaminase antibodies (AGTAs), and anti–thyroid peroxidase (anti-TPO) antibodies were measured. All subjects were genotyped for autoimmune risk alleles, and the association between number of autoimmune risk alleles present and number of types of autoantibodies present was studied. A phenome-wide association study (PheWAS) was conducted to study potential associations between autoantibodies and clinical diagnoses among RA cases and non-RA controls. Results: The mean ages were 60.7 years in RA cases and 64.6 years in non-RA controls. The proportion of female subjects was 79% in each group. The prevalence of ACPAs and ANAs was higher in RA cases compared to controls (each P < 0.0001); there were no differences in the prevalence of anti-TPO antibodies and AGTAs. Carriage of higher numbers of autoimmune risk alleles was associated with increasing numbers of autoantibody types in RA cases (P = 2.1 × 10[superscript −5]) and non-RA controls (P = 5.0 × 10[superscript −3]). From the PheWAS, the presence of ANAs was significantly associated with a diagnosis of Sjögren's/sicca syndrome in RA cases. Conclusion: The increased frequency of autoantibodies in RA cases and non-RA controls was associated with the number of autoimmune risk alleles carried by an individual. PheWAS of EMR data, with linkage to laboratory data obtained from blood samples, provide a novel method to test for the clinical significance of biomarkers in disease. National Institutes of Health (U.S.) (Grant U54-LM-008748) 2014-10-14T19:37:12Z 2014-10-14T19:37:12Z 2013-03 2012-11 Article http://purl.org/eprint/type/JournalArticle 00043591 1529-0131 http://hdl.handle.net/1721.1/90919 Liao, Katherine P., Fina Kurreeman, Gang Li, Grant Duclos, Shawn Murphy, Raul Guzman, Tianxi Cai, et al. “Associations of Autoantibodies, Autoimmune Risk Alleles, and Clinical Diagnoses from the Electronic Medical Records in Rheumatoid Arthritis Cases and Non-Rheumatoid Arthritis Controls.” Arthritis & Rheumatism 65, no. 3 (February 25, 2013): 571–581. https://orcid.org/0000-0001-8411-6403 en_US http://dx.doi.org/10.1002/art.37801 Arthritis & Rheumatism Creative Commons Attribution-Noncommercial-Share Alike http://creativecommons.org/licenses/by-nc-sa/4.0/ application/pdf Wiley Blackwell PMC |
| spellingShingle | Liao, Katherine P. Kurreeman, Fina Li, Gang Duclos, Grant Murphy, Shawn N. Guzman, Raul Cai, Tianxi Gupta, Namrata Gainer, Vivian Schur, Peter Cui, Jing Denny, Joshua C. Szolovits, Peter Churchill, Susanne Kohane, Isaac Karlson, Elizabeth W. Plenge, Robert M. Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records |
| title | Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records |
| title_full | Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records |
| title_fullStr | Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records |
| title_full_unstemmed | Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records |
| title_short | Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records |
| title_sort | autoantibodies autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non ra controls in the electronic medical records |
| url | http://hdl.handle.net/1721.1/90919 https://orcid.org/0000-0001-8411-6403 |
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