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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-689àT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,c2=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±1.22mmol/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/m~2)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。
Objective To investigate the association between C-689T polymorphism in promoter region of peroxisome proliferator-activated receptor-γ2 (PPAR-γ2) gene and coronary heart disease. Methods This case-control study included 455 CHD patients in the Han Chinese non-diabetic population as the case group and 693 healthy subjects as the control group. The smoking, drinking and physical activities of the subjects were collected as questionnaires; height, weight, waist circumference and blood pressure were measured, body mass index (BMI) was calculated; fasting blood glucose, total cholesterol and triglyceride levels were measured. The polymerase chain reaction restriction fragment length polymorphism was used to detect the C-689ΔT mutation in PPAR-γ2 gene promoter region. The distribution of different genotypes between case group and control group was analyzed. The differences of genotypes, clinical measurement indexes and laboratory indexes between the two groups were compared. The effects of genotype on the risk of coronary heart disease were analyzed by single factor and multivariate regression analysis . Results The frequencies of C-689T polymorphism of CC, CT and TT genotypes were 89.7%, 9.9% and 0.4% respectively in the case group and 93.1%, 6.6% and 0.3% in the control group respectively, with significant differences between the two groups (CC vs. CT + TT, c2 = 6.243, P = 0.041). The total cholesterol level of -689T allele carriers (n = 95) was significantly higher than that of non-carriers (n = 1053, 5.12 ± 1.26 vs 4.76 ± 1.22 mmol / L, P = 0.001). Male-689T allele carriers (n = 51) had larger waist circumference, heavier weight, and higher levels of total cholesterol and triglycerides than non-carriers (n = 656) (all P <0.05). In obese individuals (BMI ≥25 kg / m ~ 2), waist circumference and BMI were greater in subjects with the -689T allele (n = 82) compared with non-carriers (n = 231), and systolic blood pressure and total cholesterol Higher (all P <0.05). The -689T allele was an independent predictor of coronary heart disease after adjusting for age, gender, waist circumference, weight, BMI, smoking, physical activity, blood pressure, fasting glucose, total cholesterol and triglycerides (OR = 1.668, 95% CI : 1.031-2.705, P = 0.037). Conclusion The -689T allele may be associated with the high risk of coronary heart disease in Chinese Han population. There may be correlation between -689T allele and risk factors of coronary heart disease.