Association of PLCL2 and AP3D1-DOT1L-SF3A2 variants with the risk of coronary artery disease and its clinical phenotypes in a Chinese population

Objective: PLCL2 is expressed in lymphocytes and platelets, and these cells play a pivotal role in the pathogenesis of atherosclerosis. AP3D1-DOT1L-SF3A2, expressed in lymphocytes and endothelial cells, also has an important role in the progression of atherosclerosis. Recently, a genome-wide association study identified PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in a Japanese population. Therefore, we performed a case-control study to investigate the relationship between the single nucleotide polymorphisms, (SNPs) PLCL2 (rs4618210) and AP3D1-DOT1L-SF3A2 (rs3803915), and the risk of coronary artery disease (CAD) and its clinical phenotypes in a Chinese population. Methods: The subjects (n=447) enrolled included 219 cases with confirmed CAD and 228 controls, and all participants underwent elective coronary angiography. The SNPs rs4618210 and rs3803915 were genotyped by the ligase detection reaction. The distribution of genotypes and alleles between CAD cases and controls and their association with clinical phenotypes and lesion severity were analyzed. Results: There were significant differences in the frequencies of the rs4618210 G allele between CAD patients and controls (OR, 2.32; 95% CI, 1.80~2.98; P<0.01). Analysis of the distribution of genotypes at rs4618210 also revealed a difference between the CAD patients with MI and those with unstable angina (P=0.05). When the 219 CAD patients were divided into three groups (1-, 2-, and 3-vessel disease), the distribution of the two SNPs was not different among the groups, and there was no association between the SNPs and CAD severity (all P>0.05). Furthermore, there was no significant difference in the distribution of SNP rs3803915 between the CAD patients and controls, and there was no association with CAD severity or clinical phenotypes (all P>0.05). Conclusions: In conclusion, in our sample of patients from the east region of China, the PLCL2 gene and not the AP3D1-DOT1L-SF3A2 variant might be associated with risk of CAD and its clinical phenotypes.