RGD Reference Report - Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction. - Rat Genome Database

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Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction.

Authors: Xu, J  Li, W  Bao, X  Ding, H  Chen, J  Zhang, W  Sun, K  Wang, J  Wang, X  Wang, H  Yu, H  Song, W  Ma, W  Zhang, L  Wang, C  Wang, D  Hui, R 
Citation: Xu J, etal., Clin Sci (Lond). 2010 Jul 9;119(8):353-9.
RGD ID: 6484126
Pubmed: PMID:20518747   (View Abstract at PubMed)
DOI: DOI:10.1042/CS20100151   (Journal Full-text)

uPA (urokinase-plasminogen activator) and its receptor (uPAR) have been implicated in a broad spectrum of pathophysiological processes, including fibrinolysis, proteolysis, inflammation, atherogenesis and plaque destabilization, all of which are involved in the pathogenesis of MI (myocardial infarction). We hypothesized that putative functional genetic variation in the two genes encoding uPA and uPAR (PLAU and PLAUR respectively) might influence the susceptibility to MI. We genotyped rs4065 [3'-UTR (untranslated region) *141C>T) and rs2227564 (Pro141Leu) in the PLAU gene as well as rs344781 (-516T>C) in the PLAUR gene in 633 MI patients and 1237 gender- and age-matched control subjects. Our results showed that the T allele of rs4065 was significantly associated with an increased risk of MI, with an adjusted OR (odds ratio) of 1.38 [95% CI (confidence interval), 1.07-1.78; P=0.012) under the dominant model, 1.4 (95% CI, 1.12-1.75; P=0.003) under the additive model and 2.5 (95% CI, 1.15-5.41; P=0.02) under the recessive model. The findings were then replicated in another independent case-control study including 545 MI patients and 597 control subjects. In conclusion, our results suggest that rs4065 might be a previously unknown genetic risk factor for MI in the Chinese Han population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PLAUHumanmyocardial infarction  IAGP DNA:SNP:3' utr:c.*141C>T (rs4065) (human)RGD 
PlauRatmyocardial infarction  ISOPLAU (Homo sapiens)DNA:SNP:3' utr:c.*141C>T (rs4065) (human)RGD 
PlauMousemyocardial infarction  ISOPLAU (Homo sapiens)DNA:SNP:3' utr:c.*141C>T (rs4065) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PLAUHumanAbnormal EKG  IAGP DNA:SNP:3' utr:c.*141C>T (rs4065)RGD 
PLAUHumanArterial stenosis  IAGP DNA:SNP:3' utr:c.*141C>T (rs4065)RGD 
PLAUHumanMyocardial infarction  IAGP DNA:SNP:3' utr:c.*141C>T (rs4065)RGD 
PLAUHumanRegional left ventricular wall motion abnormality  IAGP DNA:SNP:3' utr:c.*141C>T (rs4065)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Plau  (plasminogen activator, urokinase)

Genes (Mus musculus)
Plau  (plasminogen activator, urokinase)

Genes (Homo sapiens)
PLAU  (plasminogen activator, urokinase)


Additional Information