Myocardial infarction (MI) is a serious result of coronary artery disease. Recent data from clinical trials have showed that the risk of MI was associated with high plasma apolipoprotein B (apoB) levels. Mutations in ApoB gene were also found to be associated with plasma lipid levels. The aim of this study is to evaluate the effect of ApoB polymorphisms on the risk of MI and plasma apoB levels in a Chinese population. Eight polymorphisms (rs676210, rs679899, rs3791980, rs2854725, rs11676704, rs512535, rs12720841 and rs2678379) in ApoB gene were genotyped in a case-control study in China, including 550 MI cases and 550 healthy controls. Carriers of GG genotype of rs676210 had significant increased risk of MI [odd ratio (OR) = 1.93, 95% confidence interval (CI): 1.23-3.03] compared to carriers of AA genotype. Haplotype analysis also showed that GTTGG (rs676210-rs2854725-rs11676704-rs3791980-rs2678379) haplotype had significant increased risk of MI (OR = 2.82, 95% CI: 1.49-5.33) compared with ATTGA haplotype. Furthermore, apoB rs676210 and rs2678379 polymorphisms were significantly associated with plasma levels of apoB in healthy controls (P = 0.01 and 0.02). Our findings indicated that ApoB mutations may be associated with the risk of MI and plasma ApoB levels in healthy controls in Chinese population.