MtDNA haplogroups and Osteoarthritis

The MMP-13 was the only biomarker significantly increased in
OA patients, when compared with healthy controls, in both mtDNA haplogroups
H and J (p<0.001). Type II collagen biomarkers such as Coll2-1,
Coll2-1NO2, Coll2 ratio, C2C, CPII and C2C:CPII ratio were significantly
increased in OA patients that carry the mtDNA haplogroup H when compared
with OA carriers of the mtDNA haplogroup J (p<0.01 in all cases).
Two logistic regression models for diagnosis, adjusted for age, gender and
smoking status, were constructed. For haplogroup H, the regression model
obtained showed that the biomarkers significantly associated with OA were
hyaluronic acid and C2C:CPII; the area under the curve (AUC) of the ROC
curve for this model was 0.926 (95% CI=0.857-0.995) and the optimal probability
cutoff for discriminate between OA and healthy controls was 0.269,
with a sensitivity of 96%, a specificity of 78%, and a positive likelihood
ratio of 4.3. For haplogroup J, the biomarkers significantly associated with
OA were MMP-13, MMP-3 and C2C; the AUC for this model was 0.880
(95% CI=0.782-0.978), and the optimal probability cutoff for discriminate
between OA patients and healthy controls was 0.271, with a sensitivity of
96%, a specificity of 68%, and a positive likelihood ratio of 3.

source