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Circ J. 2008 Aug;72(8):1213-7.

Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population.

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Department of Epidemiology, Research Institute, National Cardiovascular Center, Suita, Japan.



Recent large-scale genome-wide association studies have identified several loci associated with the risk of coronary artery disease (CAD). The aim of the present study was to examine whether the previously reported CAD-associated single-nucleotide polymorphisms (SNPs) confer susceptibility to myocardial infarction (MI) in a study population of 2,475 controls and 589 cases of MI. The effect of the CAD-associated SNPs on cardiovascular risk factors in the control group was also investigated.


Significant associations were observed between 2 SNPs, rs1333049 on chromosome 9p21 and rs17465637 on chromosome 1q41, and MI, with odds ratios adjusted for age, sex, diabetes, hypertension and smoking habit of 1.47 (95% confidence interval (CI), 1.15-1.89; corrected p=0.006) and 1.45 (95%CI, 1.15-1.83; corrected p=0.006) for rs1333049 and rs17465637, respectively. None of the genotypes was associated with body mass index, plasma lipid profile, blood pressure, glucose, or hemoglobin A1c. The genotypes also had no effect on the marker of inflammation (C-reactive protein) or atherosclerosis (mean and maximum carotid intima-media thickness).


Although the underlying mechanisms are not clearly understood, the previously reported association between the 2 SNPs (rs1333049 and rs17465637) and MI was reproduced in this Japanese sample.

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