中国人群β_3肾上腺素能受体基因Trp64Arg突变与冠心病关系的研究

Relationship between β_3 -adrenergic Trp64Arg mutation and coronary heart disease in Chinese

目的 研究中国人群 β3肾上腺素能受体 (β3AR)基因Trp64Arg突变频率以及该突变对冠心病患者临床特征的影响。方法 应用PCR/RFLP技术检测 2 52例中国人 (健康体检者 1 2 0例 ,冠心病患者 1 32例 )的 β3AR基因Trp64Arg突变基因型 ,并比较两组的临床特征。结果 (1 )冠心病组与对照组 β3AR基因Trp64Arg突变频率分别为 1 5 9%与 1 6 7% ,两者差异无显著性 (P >0 0 5)。β3AR基因Trp64Arg突变者的体重指数显著高于正常基因型 (P <0 0 5)。 (2 )突变与否间的临床特征差异无显著性 (P >0 0 5)。结论 β3AR基因突变杂合子型 (Trp/Arg)可能不是冠心病发生的决定因素。但Trp/Arg杂合子与Trp/Trp纯合子人群间体重指数差异有显著性 。

Objective To investigate the Trp64Arg mutation frequency of the β 3 adrenergic receptor (β 3AR) gene in Chinese and to further ascertain the relationship between the mutation and the clinical features of coronary heart disease (CHD) Method A total of 132 patients with angiographically confirmed CHD and 120 healthy controls were genotyped for the Trp64Arg polymorphism by polymerase chain reaction restriction fragment length polymorphism (PCR/RFLP) analysis Results Among the patients with CHD, 81 8% were wild type Trp/Trp, 15 9% were heterozygotes, and 2 3% were homozygous Arg/Arg The corresponding percentages in control group were 82 5%,16 7% and 0 8%, respectively ( P =0 35) The body mass index was significantly different between subjects with and without the mutation in both CHD group (27 8±0 6, n =21 vs 27 8±0 6, n =108; P =0 02) and control group (26 9±0 7, n =20 vs 24 5±0 6, n =99; P =0 03) The blood pressure, plasma glucose and lipid were relatively similar in subjects with and without the mutation in CHD and normal control groups Conclusion The Trp64Arg mutation in the β 3AR gene is not a major risk factor for CHD, at least in its heterozygous type