Chinese Medical Sciences Journal ›› 2017, Vol. 32 ›› Issue (3): 177-184.doi: 10.24920/J1001-9294.2017.042

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黎简平1,*(), 傅永平1, 常文秀1, 易昌容1, 刘丽华2, 邢海燕3   

  1. 1 绍兴文理学院附属医院心内科,浙江绍兴 312000
    2 绍兴文理学院附属医院分子生物学实验室,浙江绍兴312000
    3 绍兴文理学院附属医院统计室,浙江绍兴312000
  • 收稿日期:2016-06-02 出版日期:2017-09-26 发布日期:2017-09-27
  • 通讯作者: 黎简平

Functional Variant of C-689T in the Peroxisome Proliferator-Activated Receptor-γ2 Promoter is Associated with Coronary Heart Disease in Chinese Nondiabetic Han People

Li Jian-ping1,*, Fu Yong-ping1, Chang Wen-xiu1, Yi Chang-rong1, Liu Li-hua2, Xing Hai-yan3   

  1. 1 Department of Cardiovascular Internal Medicine, Affiliated Hospital of Shaoxing University, Xiaoxing, Zhejing 312000, China
    2 Laboratory of Molecular Biology, Medical College of Shaoxing University, Shaoxing, Zhejiang 312000, China
    3 Department of Statistics, Medical College of Shaoxing University, Shaoxing, Zhejiang 312000, China
  • Received:2016-06-02 Online:2017-09-26 Published:2017-09-27
  • Contact: Li Jian-ping


目的 研究过氧化物酶体增殖物激活受体-γ2(PPAR-γ2)基因启动子区C-689T多态性与冠心病的相关性。方法 本病例对照研究在中国汉族非糖尿病人群中纳入455例冠心病患者作为病例组,693名健康体检者作为对照组。以问卷的形式采集受试者吸烟、饮酒、体育活动的情况;测量身高、体重、腰围及血压,计算体重指数(BMI);测定空腹血糖、总胆固醇和甘油三酯水平。采用聚合酶链反应限制性片段长度多态性检测PPAR-γ2基因启动子区C-689→T突变。分析病例组和对照组间不同基因型的分布差异,并比较两组间的基因型、临床测量指标、实验室检查指标的差异,采用单因素和多因素回归分析基因型对冠心病风险的影响。结果 病例组的C-689T多态性CC,CT和TT基因型频率分别为89.7%, 9.9%和0.4%,对照组分别为 93.1%,6.6%和0.3%,两组的分布差异有显著性 (CC比CT+TT,γ2=6.243,P=0.041)。-689T等位基因携带者(n=95)的总胆固醇水平显著高于非携带者(n=1053,5.12±1.26比4.76±1.22 mmol/L,P=0.001)。男性-689T等位基因携带者(n=51)比男性非携带者(n=656)的腰围更大、体重更重、总胆固醇和甘油三酯水平更高(均P<0.05)。在肥胖者 (BMI≥25 kg/m2)中,-689T等位基因携带者(n=82)与非携带者(n=231)比较,腰围和BMI更大、收缩压和总胆固醇水平更高(P均<0.05)。在校正年龄、性别、腰围、体重、BMI、吸烟、身体活动、血压、空腹血糖、总胆固醇和甘油三酯后,-689T等位基因是冠心病的独立预测因子(OR=1.668,95%CI:1.031-2.705,P=0.037)。结论 -689T等位基因可能与中国汉族人群冠心病高风险性相关。-689T等位基因与冠心病危险因素可能存在相关性。

关键词: 遗传学, 过氧化物酶体增值物激活受体-γ2, 冠心病, 单核苷酸多态性

Abstract: Objective

To investigate the association between the polymorphism of C-689T in the peroxisome proliferator-activated receptor-γ2 (PPARγ2) promoter and coronary heart disease (CHD).


This case-controlled study was conducted in nondiabetic Chinese Han people, which enrolled 455 patients with CHD (cases) and 693 subjects without CHD (controls). Data of clinical indexes were collected, including height, body weight, waist circumstance, systolic blood pressure (SBP), diastolic blood pressure (DBP), smoking, drinking, physical activity, as well as body mass index (BMI). Fasting blood glucose (FBG), plasma total cholesterol (TC) and triglyceride (TG) levels were measured. Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine the PPARγ2 promoter C-689→T substitution. The genotype distribution of PPARγ2 promoter C-689T, allelic frequency, clinical indexes, and laboratorial measurements were compared between the two groups. The effect of genotype on the risk of CHD was assessed using univariate and multivariate regression model.


The genotype frequencies of CC, CT and TT in PPARγ2 promoter C-689T were 89.7%, 9.9% and 0.4% in the case group, and 93.1%, 6.6% and 0.3% in the control group, respectively (CC vs. CT+TT, χ2= 6.243, P=0.041). Carriers of -689T allele (n=95) had significantly higher TC level than non-carriers (n=1053) (5.12±1.26 vs. 4.76±1.22 mmol/L, P=0.001). Male carriers of -689T allele (n=51) were significantly higher in waist circumference, body weight, TC and TG than male non-carriers (n=656) (all P<0.05). In subjects whose BMI was over 25 kg/m2, carriers of -689T allele (n=82) had significantly higher levels of waist circumference, BMI, SBP and TC than non-carriers (n=231) (all p<0.05). The -689T allele was an independent risk factor for CHD (OR=1.668, 95%CI: 1.031-2.705, P=0.037) after adjusting for age, gender, waist circumference, body weight, BMI, smoking, physical activities, SBP, DBP, FBG, TC and TG level.


These data support the hypothesis that the -689T allele is associated with an increased risk of CHD, in Chinese Han people and correlates significantly with the profiles of CHD-related risk factors.

Key words: peroxisome proliferator-activated receptor-2, coronary heart disease, single nucleotide polymorphism

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