RGD Reference Report - Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction. - Rat Genome Database

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Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction.

Authors: Nakayama, Tomohiro  Soma, Masayoshi  Saito, Satoshi  Honye, Junko  Yajima, Junji  Rahmutula, Dolkun  Kaneko, Yukie  Sato, Mikano  Uwabo, Jiro  Aoi, Noriko  Kosuge, Kotoko  Kunimoto, Masako  Kanmatsuse, Katsuo  Kokubun, Shinichiro 
Citation: Nakayama T, etal., Am Heart J. 2002 May;143(5):797-801. doi: 10.1067/mhj.2002.122171.
RGD ID: 401901268
Pubmed: PMID:12040339   (View Abstract at PubMed)
DOI: DOI:10.1067/mhj.2002.122171   (Journal Full-text)


BACKGROUND: Myocardial infarction (MI) is a complex multifactorial and polygenic disorder that is thought to result from an interaction between an individual's genetic makeup and various environmental factors. The purpose of this study was to investigate the association between a novel single nucleotide polymorphism in the prostacyclin synthase gene and MI.
METHODS AND RESULTS: By the use of polymerase chain reaction-single-strand conformation polymorphism analysis, we identified a single nucleotide polymorphism, C1117A, in exon 8. This nucleotide change did not cause an amino acid change in codon 373. We performed an association study of the polymorphism in 138 patients and 130 healthy control subjects. Multiple logistic linear regression analysis showed the genotype distributions were significantly different between the control group and the MI group (odds ratio, 2.12; 95% CI, 1.47-3.05, P =.04). The C/C genotype was found more frequently in the MI group than in the control group.
CONCLUSIONS: We conclude that the C1117A polymorphism in exon 8 is associated with risk for MI and may be a genetic marker of MI in Japanese persons.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTGISHumanmyocardial infarction  IAGP DNA:silent mutation:exon 8:1117C>A (human)RGD 
PtgisRatmyocardial infarction  ISOPTGIS (Homo sapiens)DNA:silent mutation:exon 8:1117C>A (human)RGD 
PtgisMousemyocardial infarction  ISOPTGIS (Homo sapiens)DNA:silent mutation:exon 8:1117C>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTGISHumanMyocardial infarction  IAGP DNA:silent mutation:exon 8:1117C>ARGD 
Objects Annotated

Genes (Rattus norvegicus)
Ptgis  (prostaglandin I2 synthase)

Genes (Mus musculus)
Ptgis  (prostaglandin I2 (prostacyclin) synthase)

Genes (Homo sapiens)
PTGIS  (prostaglandin I2 synthase)


Additional Information