Analysis of Asian Mitochondrial DNA Haplogroups Associated With the Progression of Knee Osteoarthritis in Koreans

Objective. We investigated Asian mitochondrial DNA (mtDNA) haplogroups associated with knee osteoarthritis (OA) progression in a prospective community-based cohort comprised of Koreans. Methods. Epidemiologic data and Kellgren-Lawrence (K/L) scores of knee radiographs were obtained from the second (2005∼2006) and sixth (2013∼2014) follow-up, and patient DNA was analyzed. The mtDNA haplogroup frequencies (M, G, D, D4, D5, M7, M8, M9, M10, N, A, N9, R, F, and B) were compared between the progression (K/L score change on either knee ≥2 or arthroplasty) and non-progression (K/L score change on both knee ≤1) groups at the sixth follow-up. Multiple logistic regression was performed to determine relative risk (RRs) of mtDNA haplogroups for OA. Results. In total, 1,115 participants were included, 405 of whom had early OA (higher K/L score on both knees of 1 or 2). Among them, 143 and 166 patients were classified in non-progression and progression groups, respectively, at the sixth follow-up. The most frequent haplogroups, B and D4, in Koreans also showed a high frequency in our study. There were no significantly different haplogroups between the non-progression and progression groups. However, the frequency of haplogroup D4 was likely higher in the non-progression g roup than in the progression group, although not significantly (13.3% vs. 7.2%, RR=0.51, p=0.081 in the unadjusted model and RR=0.56, p=0.149 in the adjusted model). Conclusion. No significant haplogroups are related to OA progression. Large-scaled studies are needed to reveal the association between mtDNA haplogroups and OA. (J Rheum Dis 2020;27:168-173)