线粒体DNA单倍群对膝关节骨性关节炎发病率的影响

Role of mt DNA Haplogroups in Prevalence of Knee Osteoarthritis

目的对膝关节骨性关节炎（OA）与线粒体DNA（mt DNA）的相关性进行研究,评估mt DNA单倍群对OA发病率的影响及其潜在的作用机制。方法收集2012年1月至2014年1月就诊的187例膝关节OA患者作为研究组,年龄43~86岁,平均年龄（61.59±6.28）岁。未达到膝关节OA诊断标准的420例患者作为对照组,且无其他骨与关节的退行性变,年龄27~84岁,平均年龄（55.32±8.98）岁。OA患者纳入标准根据Kellgren-Lawrence评分〉2分者,并按分值分组。通过mt DNA测序和拷贝数的测量进行统计学分析,评估mt DNA单倍群对OA发生的影响。结果 OA患者中mt DNA单倍群G出现频率明显高于对照组（OR=3.834,95%CI=1.139~12.908,P〈0.05）,且mt DNA SNP位点T16362C（OR=1.715,95%CI=1.174~2.506,P〈0.05）有加重病情倾向。同时,携带有mt DNA单倍群G的OA患者病情更重（OR=10.870,95%CI=1.307~90.909,P〈0.05）。mt DNA单倍群B和B4在OA患者中出现频率明显降低（OR=0.503,95%CI=0.283~0.893,P〈0.05）/（OR=0.483,95%CI=0.245~0.954,P〈0.05）。结论不同的mt DNA单倍群对OA的发生与病变均起到一定作用。

Objective To investigate whether mt DNA haplogroups contribute to the prevalence of knee OA. Methods We had carried out a comprehensive case-control study on 187 knee OA patients（ age 61. 59 ± 6. 28 years,range 43- 86years） and 420 geographically matched controls（ age 55. 32 ± 8. 98 years,range 27- 84 years） that were recruited at the General Hospital of Shenyang Military Region from January 2012 to January 2014. OA patients were classified on the Kellgren / Lawrence scale,cases more than two points were included into the disease severity study and the data were analyzed by adjusting for age and sex. Results We found that patients with haplogroup G（ OR = 3. 834,95% CI = 1. 139- 12. 908,P〈0. 05） and T16362C（ OR = 1. 715,95% CI = 1. 174- 2. 506,P〈0. 05） 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. 05）. On the other hand,people with haplogroup B / B4（ OR = 0. 503,95% CI = 0. 283- 0. 893,P〈0.05） /（ OR = 0. 483,95% CI = 0. 245- 0. 954,P〈0. 05） were less susceptible for OA occurrence. Conclusion Our study indicates that different mt DNA haplogroup plays a role in modulating OA development.