Article open access publication

Mitochondrial haplogroups in patients with rheumatoid arthritis: No association with disease and disease manifestations

PLoS ONE, Public Library of Science (PLoS), ISSN 1932-6203

Volume 12, 12, 2017

DOI:10.1371/journal.pone.0188492, Dimensions: pub.1099731451, PMC: PMC5737896, PMID: 29261674,


Sode, Jacob (1) (2) (3)

* Corresponding author



  1. (1) Department of Rheumatology Frederiksberg Hospital, Nordre Fasanvej, Frederiksberg, Denmark
  2. (2) University of Southern Denmark, grid.10825.3e, SDU
  3. (3) State Serum Institute, grid.6203.7
  4. (4) University of Copenhagen, grid.5254.6, KU






OBJECTIVE: To describe the distribution of specific mitochondrial DNA (mtDNA) haplogroups (hgs) in a cohort of patients with rheumatoid arthritis (RA). METHODS: Two-hundred nineteen consecutive patients with RA had mtDNA isolated from their blood, sequenced and haplotyped. Patients were diagnosed according to the American College of Rheumatology (ACR)/European league against Rheumatism (EULAR) criteria. Demographic and clinical data were retrieved from the Danish nationwide database (DANBIO). Logistic regression analyses were performed to test for associations. RESULTS: One-hundred eighty-four patients were eligible for analysis. Haplogroup frequencies were: H (n = 88; 47.8%), U (n = 37; 20.1%), T (n = 22; 12.0%), J (n = 16; 8.7%), K (n = 11; 5.9%), HV (n = 6; 3.3%) and V (n = 4; 2.2%). The distribution of individual hgs was identical to the background population. Radiographic erosions were significantly associated with hg clusters JT (OR = 2.37, 95% confidence interval (CI): 1.07-5.53, p = 0.038). Significantly fewer patients from hg cluster JT received biological treatment (OR = 0.17, 95% CI: 0.03-0.87, p = 0.038). Albeit, none of these associations were significant when corrected for multiple tests. CONCLUSION: There was no significant association between mtDNA hgs and presence of RA or disease manifestations. There was an, albeit insignificant, overrepresentation of patients with hg JT among patients with erosive disease; however, slightly fewer patients in the JT group were treated with biological drugs.


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