染色体9p21遗传变异与中国汉族人群冠心病的关联性

摘要

目的:分析染色体9p21区域rs2383206和rs2383207位点遗传变异与中国汉族人群冠心病的关联性,探讨染色体9p21区域是否为冠心病的易感区域.方法:采用病例-对照方法,选择580例冠心病患者为病例组,选择性别、年龄与其匹配的非心血管病患者或正常人539例为对照组.采用Sequenom MassARRAY飞行时间质谱法对受试者rs2383206和rs2383207位点进行基因分型.结果:2组受试者吸烟史、腰臀比(WHR)、高血压病史、糖尿病史、收缩压(SBP)、舒张压(DBP)和总胆固醇(TC)水平比较差异均有统计学意义(P＜0.05),病例组冠心病患者吸烟史、高血压病史和糖尿病史所占比例明显高于对照组(P＜0.01),WHR、SBP、DBP和TC水平也明显高于对照组(P＜0.05或P＜0.01).rs2383206位点的基因型在病例组和对照组人群中频数比较差异无统计学意义(x2 =4.623,P＞0.05);rs2383207位点基因型在病例组和对照组人群中频数比较差异有统计学意义(x2=8.936,P＜0.05),其中AA基因型在病例组频数(8.3％)分布明显低于对照组(13.6％)(P＜0.05).结论:吸烟、WHR、高血压病史、糖尿病史、SBP、DBP和TC可能是冠心病的危险因素;9p21区域rs2383207位点AA基因型可能是冠心病的保护基因型.%Objective:To analyze the association of the genetic variations of rs2383206 and rs2383207 in 9p21region with the coronary heart disease (CHD) in the Chinese Han population,and to explore whether chromosome 9p21 is a susceptibility region for CHD.Methods:Case-control study was conducted.A total of 580 CHD patients were selected as case group,and 539 cases of non-cardiovascular disease patients or normal people with matched age and sex were selected as control group.The rs2383206 and rs2383207 loci of the subjects were genotyped with Sequenom MassARRAY time of flight mass spectrometer (TOF).Results:The smoking,waist-to-hip ratio (WHR),hypertension,diabetes mellitus,systolic blood pressure (SBP),diastolic blood pressure (DBP) and total cholesterol (TC) of the subjects in two groups were statistically different (P＜0.05).Compared with control group,the ratios of patients with smoking,hypertension and diabetes mellitus of the patients in case group were increased (P＜0.05);the WHR,SBP,DBP and TC level were also increased (P＜0.05).There was no significant difference in the genotypic distribution of rs2383206 between case group and control group (x2 =4.623,P＞0.05),while the genotypic distribution of rs2383207 was statistically different (x2 =8.936,P＜0.05);the distribution frequency of AA genotype in case group (8.3％) was significantly lower than that in control group (13.6％) (P＜0.05).Conclusion:Smoking,WHR,hypertension,diabetes mellitus,SBP,DBP and TC may be the risk factors for CHD;the AA genotype of 9p21 rs2383207 loci may be the protective genotype of CHD.