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Int. J. Mol. Sci. 2014, 15(2), 2646-2659; doi:10.3390/ijms15022646

Role of mtDNA Haplogroups in the Prevalence of Knee Osteoarthritis in a Southern Chinese Population

1
Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical University, Wenzhou 325035, Zhejiang, China
2
Department of Orthopedics and Rescue Center of Severe Wound and Trauma of Chinese PLA, General Hospital of Shenyang Military Area Command of Chinese PLA, Shenyang 110016, Liaoning, China
3
Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA
These authors contributed equally to this work.
*
Authors to whom correspondence should be addressed.
Received: 1 January 2014 / Revised: 15 January 2014 / Accepted: 22 January 2014 / Published: 14 February 2014
(This article belongs to the collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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Abstract

Mitochondrial DNA (mtDNA) has been implicated in various human degenerative diseases. However, the role of mtDNA in Osteoarthritis (OA) is less known. To investigate whether mtDNA haplogroups contribute to the prevalence of knee OA, we have carried out a comprehensive case-control study on 187 knee OA patients and 420 geographically matched controls in southern China. OA patients were classified on the Kellgren/Lawrence scale from two to four for the disease severity study and the data were analyzed by adjusting for age and sex. We found that patients with haplogroup G (OR = 3.834; 95% CI 1.139, 12.908; p = 0.03) and T16362C (OR = 1.715; 95% CI 1.174, 2.506; p = 0.005) exhibited an increased risk of OA occurrence. Furthermore, patients carrying haplogroup G had a higher severity progression of knee OA (OR = 10.870; 95% CI 1.307, 90.909; p = 0.007). On the other hand, people with haplogroup B/B4 (OR = 0.503; 95% CI 0.283, 0.893; p = 0.019)/(OR = 0.483; 95% CI 0.245, 0.954; p = 0.036) were less susceptible for OA occurrence. Interestingly, we found OA patients also exhibited a general increase in mtDNA content. Our study indicates that the mtDNA haplogroup plays a role in modulating OA development.
Keywords: mitochondria; haplogroup; osteoarthritis; copy number mitochondria; haplogroup; osteoarthritis; copy number
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Fang, H.; Liu, X.; Shen, L.; Li, F.; Liu, Y.; Chi, H.; Miao, H.; Lu, J.; Bai, Y. Role of mtDNA Haplogroups in the Prevalence of Knee Osteoarthritis in a Southern Chinese Population. Int. J. Mol. Sci. 2014, 15, 2646-2659.

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