Abstract: Objective: To analyze the association of the genetic variations of rs2383206 and rs2383207 in 9p21 region 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 (χ²=4.623,P>0.05),while the genotypic distribution of rs2383207 was statistically different (χ²=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.

Key words: chromosome 9p21, coronary heart disease, variation, case-control study