过氧化物酶体增殖物激活受体α内含子1A／C基因多态性与代谢综合征的关系

Relationship between peroxisome proliferator-activated receptor alpha intron 1A/C genetic polymorphism and metabolic syndrome

目的研究过氧化物酶体增殖物激活受体α（PPARα）内含子1A／C基因多态性与代谢综合征（MS）的关系。方法选择苏南地区的苏州市区、常熟市及苏北地区的赣榆县队列人群共2348名进行随访调查，排除已知MS病例，实际接受随访1887名。测定腰围、血压、总胆固醇（TC）、高密度脂蛋白胆固醇（HDL—C）、甘油三酯（TG）、空腹血糖等指标，对新发MS患者进行1：1配对巢式病例一对照研究。使用TaqMan荧光探针法检测PPARet内含子1A／C基因多态性。结果MS病例组389例，对照组389名。MS病例组的C等位基因频率为22．24％（173／778），低于对照组的24．68％（192／778），但差异无统计学意义（Х^2=1．29，P〉0．05）。基因型AA＋AC、CC中MS患者分别占50．70％（363／716）和41．94％（26／62），高血糖患者分别占21．37％（153／716）和11．29％（7／62）。与基因型AA＋AC相比，基因型CC与高血糖之间存在负相关，其调整OR值为0．39（95％CI：0．17～0．90），与MS、腹部肥胖、高TG血症、HDL—C降低及高血压间相关性无统计学意义，其调整OR值分别为0．75（95％CI：0．44～1．28）、0．67（95％C1：0．38～1．17）、0．97（95％CI：0．53～1．76）、0．72（95％（21：0．41～1．25）、0．72（95％CI：0．42～1．25），P值均〉0．05。结论未发现PPARα内含子1A／C的C等位基因与MS相关。相对于基因型AA＋AC，基因型CC与高血糖之间存在负相关关系。

Objective To identify the relationship between genetic polymorphisms of peroxisome proliferator-activated receptor alpha （PPARct） intron 1A/C and metabolic syndrome （MS） in a Chinese population. Methods A population-based case-control study was conducted in Suzhou city, Changshu County and Ganyu County in Jiangsu Province China, on the basis of an ongoing cohort study and 2348 cases were investigated. After the exclusion of the known MS cases, 1847 eligible subjects were successfully followed-up and their waist circumference （ WC ）, body mass index, blood pressure, total cholesterol （ TC ）, high density lipoprotein cholesterol （HDL-C）, triglycerides （TG） and fasting plasma glucose were measured. Newly diagnosed MS patients were recruited as cases, controls were individual matched with each case. TaqMan fluorescence probe method was used to detect the genetic polymorphism of PPARα intron 1A/ C. Results The current analysis consisted of 389 MS patients and 389 matched controls. The C allele gene frequency of PPARα intron 1A/C in the case group was 22. 24% （173/778）, lower than that in the control group,which was 24. 68% （192/778） ; whereas the difference was not statistically significant （Х^2 = 1.29, P 〉0. 05）. In the genotypes AA ＋ AC and CC,MS patients were accounted for 50. 70% （363/716） and 41.94% （26/62） and hyperglycemia accounted for 21.37% （153/716） and 11.29% （7/62）. Compared to the genotypes AA ＋ AC, genotype CC was observed to be inversely associated with hyperglycemia （ the adjusted OR = 0. 39 ;95 % CI：0. 17 - 0. 90 ） but not related to the occurrence of MS （ OR = 0. 75 ; 95 % CI： 0.44 - 1.28 ） and other components of MS e. g. , abdominal obesity （ the adjusted OR = 0. 67 ; 95% CI： 0. 38 - 1.17） ,hypertriglyceridemia （ the adjusted OR = 0. 97; 95% CI：0. 53 - 1.76）, low HDL-C （ the adjusted OR = 0. 72 ; 95% CI ：0. 41 - 1.25 ） and hypertension （ the adjusted OR = 0. 72 ; 95% CI ： 0. 42 - 1.25 ） all P values 〉 0. 05. Conclusion C allele of PPARα intron 1A/C is not found to be associated with MS in the Chinese population. But comparing with the genotypes AA ＋ AC, there is an inverse association between CC genotype and hyperglycemia.