[Study of association of platelet endothelial cell adhesion molecule-1 gene polymorphism with acute myocardial infarction].
OBJECTIVE
To investigate the association of single nucleotide polymorphism (SNP) and its haplotypes of platelet endothelial cell adhesion molecule-1 (PECAM-1) gene with susceptibility to acute myocardial infarction (AMI), and to analyze association the serum levels and genotypes of PECAM-1 with AMI.


METHODS
Three SNPs of PECAM-1 gene Leu125Val, Asn563Ser and Gly670Arg were analyzed in 180 patients with AMI and 200 age and sex matched controls, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy, and the serum level of PECAM-1 was determined by enzyme linked immunosorbent assay (ELISA). Frequency of haplotypes and linkage disequilibrium of PECAM-1 gene in different groups were analyzed by SHEsis programs.


RESULTS
The distributions of PECAM-1 gene Asn563Ser and Gly670Arg polymorphisms were not different between AMI and control group (P>0.05), but the PECAM-1 gene Leu125Val polymorphism was significantly different (P<0.05). The relative risk suffered from AMI of Val allele was 1.480 folds of the Leu allele carriers [odds ratio (OR)=1.480, 95% confidence interval (CI): 1.111-1.972, P=0.007]; the serum level of PECAM-1 Val allele carriers was significantly higher than that of noncarriers (P<0.01). With the results of the genotyping analyses, PECAM-1 gene Leu125Val, Asn563Ser and Gly670Arg polymorphisms showed strong linkage disequilibrium, and the Val-Ser-Arg haplotype was associated with a significantly increased risk of AMI as compared with the controls (OR=1.489, 95%CI: 1.118-1.984, P=0.006).


CONCLUSIONS
PECAM-1 gene Leu125Val polymorphism and its Val-Ser-Arg haplotype are associated with AMI, Val allele is an important genetic susceptibility gene for AMI. The PECAM-1 Val allele carriers may have a higher risk by enhancing the PECAM-1 expression in the pathogenesis of AMI.
Fu
Xue-lin
XL
Department of Emergency, the Affiliated Hospital of Guilin Medical College, Guilin 541001, Guangxi, China. fxl-1973@163.com
Chen
Jun-ning
JN
Wei
Guang-yue
GY
Liang
Li-ping
LP
Li
Zuo-xing
ZX
Deng
Yu-ying
YY
Xia
Zhong-hua
ZH
D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000097:blood / Q000235:genetics*; D019408:Platelet Endothelial Cell Adhesion Molecule-1 / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D019408:Platelet Endothelial Cell Adhesion Molecule-1