RGD Reference Report - Association of 5' upstream promoter region of prostacyclin synthase gene variant with cerebral infarction. - Rat Genome Database

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Association of 5' upstream promoter region of prostacyclin synthase gene variant with cerebral infarction.

Authors: Nakayama, T  Soma, M  Rehemudula, D  Takahashi, Y  Tobe, H  Satoh, M  Uwabo, J  Kunimoto, M  Kanmatsuse, K 
Citation: Nakayama T, etal., Am J Hypertens. 2000 Dec;13(12):1263-7. doi: 10.1016/s0895-7061(00)01216-4.
RGD ID: 401901269
Pubmed: PMID:11130769   (View Abstract at PubMed)
DOI: DOI:10.1016/s0895-7061(00)01216-4   (Journal Full-text)

The aim of this study was to investigate whether there is an association between the promoter region of the prostacyclin synthase gene and cerebral infarction (CI). Using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method, we found a variable-number tandem repeat polymorphism in the 5'-upstream promoter region of the prostacyclin synthase gene. This region contains transcriptional factors-binding sites of Spl (CCCGCC) and AP-2 (CCGCCAGCCCC). The alleles varied in size from three to seven repeats of nine base pairs (bp). We performed an association study using the polymorphism in 111 patients and 152 control subjects. The transcriptional activity of the abnormal promoter region allele was determined by luciferase assay. The overall distribution of alleles differed significantly between both groups. Logistic linear regression analysis revealed the small number repeat allele to be found more frequently with CI. Transcriptional activity increased with increasing numbers of repeats. This study provides consistent support for the association between CI and the PGIS gene.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTGISHumancerebral infarction  IAGP DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7 (human)RGD 
PtgisRatcerebral infarction  ISOPTGIS (Homo sapiens)DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7 (human)RGD 
PtgisMousecerebral infarction  ISOPTGIS (Homo sapiens)DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTGISHumanAbnormal cerebral cortex morphology  IAGP DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7RGD 
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