线粒体ND2基因5178C〉A突变异质性水平与中老年人原发性高血压的关系

Correlation between heteroplasmy level of the 5178C〉A mutation in the ND2 gene of mitochondria DNA and essential hypertension in middle-aged and elderly adults

目的探讨线粒体ND2基因5178C〉A突变异质性水平与中老年人原发性高血压（EH）的相关性。方法2014-2015年共募集EH组患者108例和健康对照组109例，采集所有入选者的临床资料和血液样本，采用荧光实时定量聚合酶链反应法（探针法）进行mt5178C〉A异质性水平分析。结果mt5178C〉A异质性水平在EH组（42±11）％与健康对照组（54±13）％间的分布比较差异有统计学意义（P〈0．01）。将mt5178C〉A异质性水平以中位数（44．0％）为界，采用两步法的聚类分析，高异质性组EH的发病风险降低（OR=0．18，95％CI：0．10-0．31，P〈0．01）。在健康对照组中，对mt5178C〉A异质性水平与血压值进行相关性分析，异质性水平与收缩压（r=-0．38，P〈0．01）和舒张压（r=-0．49，P〈0．01）均呈现负相关。Logistic回归分析结果显示，在单因素分析中，mt5178C〉A异质性水平（OR=0．82，95％CI：0．77-0．87，P〈0．01）是EH的保护因素，而体质指数（OR=1．30，95％CI：1．12-1．45，P〈0．01）、总胆固醇（OR=2．13，95％CI：1．39-3．28，P=0．00）、三酰甘油（OR=7．62，95％CI：3．45-16．84，P〈0．01）和血尿素（OR=1．35，95％CI：1．04-1．77，P=0．03）均是EH的危险因素；在多因素分析中，mt5178C〉A异质性水平（OR=0．83，95％CI：0．78-0．89，P〈0．001）仍是EH的独立保护因素，但仅有体重指数（OR=1．23，95％CI：1．02-1．48，P=0．03）、总胆固醇（OR=2．17，95％CI：1．58-2．98，P=0．02）和低密度脂蛋白（OR=0．06，95％CI：0．01-0．83，P=0．04）表现出独立危险因素，并且P值处于0．05的临界状态。结论线粒体ND2基因5178C〉A突变异质性水平对中国中老年人群EH发病具有一定的保护作用。

Objectives To explore the correlation between the heteroplasmy level of mt5178C〉A mutation in ND2 gene of mitochondria DNA and essential hypertension（EH）in middle-aged and elderly adults. Methods EH patients and normotensive controts were＇recruited consecutively from 2014-2015 from general population. Demographics, clinical characteristics and blood leukocytes were collected. The mt5178C〉A mutation heteroplasmy level was quantified by the rapid and sensitive realtime polymerase chain reaction（PCR）method for each participant. Results A total of 108 EH patients and 109 controls were recruited. The mtS178C〉A mutation heteroplasmy level was（42 ± 11%）in EH patients and （54±13）% in control subjects, with statistically significant difference between the two groups（P〈0.01）. Using a two-step cluster analysis, the mt5178C〉A heteroplasmy level exceeding 44 % was associated with a decreased risk of E H（OR= 0.18,95 %,CI：0.10-0.31,P〈0.01）. Correlation analysis showed mt5178C〉 A heteroplasmy level was significantly negatively correlated with both systolic blood pressure （ r = - 0.38, P 〈0. 001 ） and diastolic blood pressure （ r = -0.49,P〈 0.01）in 109 controls. Logistic regression analysis demonstrated that in single-factor analysis, rot5178C 〉 A heteroplasmy level （ OR = 0.82,95% CI ： 0. 77-0.87, P 〈0. 01 ） was protective factor for EH,however,BMi（OR=1. 30,95%CI：1.12-1.45,P〈0.01）,total cholesterol（OR= 2.13, 95%CI：1.39-3.28,P= 0.00） ,triglyeeride（OR=7.62,95%CI：3.45-16.84,P〈0.01）and blood urea nitrogen（OR= 1.35,95%CI, P= 0. 03）were risk factors for EH. And a multiple logistic regression analysis showed that mt5178C〉 A heteroplasmy level （ OR = 0. 83,95 % CI ： 0. 78-0.89, P〈0.01 ） was independent protective factor for EH, however, only total cholesterol（OR = 2.17,95 % CI： 1.58-2.98, P =0.02） and low density lipoprotein cholesterol （OR = 0.06, 95% CI： 0. 01-0.83, P = 0.04） were independent risk factors for EH,and the P at critical 0.05 value. Conclusions Mitochondrial ND2 gene 5178C〉 A mutation heteroplasmy level exerts protective role against EH in middle-aged and elderly adults in Chinese population.