RGD Reference Report - Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, associated with myocardial infarction in the Japanese. - Rat Genome Database

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Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, associated with myocardial infarction in the Japanese.

Authors: Sasaoka, T  Kimura, A  Hohta, SA  Fukuda, N  Kurosawa, T  Izumi, T 
Citation: Sasaoka T, etal., Ann N Y Acad Sci. 2001 Dec;947:259-69; discussion 269-70.
RGD ID: 2311656
Pubmed: PMID:11795274   (View Abstract at PubMed)

We examined three missense polymorphisms of platelet-endothelial cell adhesion molecule-1 (PECAM-1), Val125Leu, Asn563Ser, and Gly670Arg, in 136 Japanese patients with myocardial infarction and 235 healthy Japanese controls. We found that these polymorphisms were in linkage disequilibrium with each other and that frequencies of 125Leu, 563Ser, and 670Arg alleles were significantly increased in patients compared with controls (0.522 vs 0.447, p = 0.048; 0.585 vs 0.502, p = 0.030; and 0.577 vs 0.492, p = 0.032, respectively). The frequencies of homozygotes for 563Ser and 670Arg alleles were also significantly increased in the patients (33.1% vs 23.4%, odds risk [OR] = 1.62, p = 0.040, 95% confidence interval [95%CI] = 1.01-2.58; and 32.4% vs 23.0%, OR = 1.60, p = 0.048, 95%CI = 1.00-2.57, respectively). These observations suggest that the 563Ser/Ser genotype and 670Arg/Arg genotype of PECAM-1 are novel genetic risk factors of myocardial infarction in Japanese. Stratification analysis of the patients showed that the associations of these PECAM-1 genotypes with myocardial infarction were preferentially found in male and younger patients (age of onset of myocardial infarction less than 60 years). In addition, the associations were stronger in patients with three-vessel disease than in the others and appeared independent of conventional risk factors including smoking, hypertension, diabetes mellitus, hyperlipidemia, and obesity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
coronary artery disease  IAGP 2311656DNA:missense mutations:cds:p.N536S and p.G670R (human)RGD 
coronary artery disease  ISOPECAM1 (Homo sapiens)2311656; 2311656DNA:missense mutations:cds:p.N536S and p.G670R (human)RGD 
myocardial infarction onsetIAGP 2311656DNA:polymorphisms: :p.N563S and p.G670R (human)RGD 
myocardial infarction onsetISOPECAM1 (Homo sapiens)2311656; 2311656DNA:polymorphisms: :p.N563S and p.G670R (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pecam1  (platelet and endothelial cell adhesion molecule 1)

Genes (Mus musculus)
Pecam1  (platelet/endothelial cell adhesion molecule 1)

Genes (Homo sapiens)
PECAM1  (platelet and endothelial cell adhesion molecule 1)


Additional Information