Genetic polymorphisms of prostacyclin synthase gene and cardiovascular disease.
Prostacyclin (PGI2) inhibits platelet aggregation and vasoconstriction. PGI2 synthase (PTGIS), a catalyst of PGI2 synthesis from prostaglandin H2, is widely distributed and predominantly found in vascular endothelial and smooth muscle cells. The PTGIS gene is localized to 20q13.11-13 and a candidate gene for cardiovascular disease. We discovered mutations and polymorphisms in this gene and reported that they were associated with essential hypertension, myocardial infarction, and cerebral infarction. These results suggest that PGI2 function depends on the different alleles of the PTGIS gene and that they may influence the risk of cardiovascular disease. Thus, individualized management strategies, such as the administration of PGI2 analogues, could be selected for variants of this gene, to help prevent the development of cardiovascular disease.
Nakayama
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Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan. nnagaya@hotmail.co.jp
D000328:Adult; D000368:Aged; D000818:Animals; D001483:Base Sequence; D002318:Cardiovascular Diseases / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D002544:Cerebral Infarction / Q000201:enzymology / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D011464:Epoprostenol / Q000031:analogs & derivatives / Q000378:metabolism* / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009203:Myocardial Infarction / Q000201:enzymology / Q000235:genetics; D018579:Patient Selection; D010375:Pedigree; D010641:Phenotype; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use; D011110:Polymorphism, Genetic; D057285:Precision Medicine; D012307:Risk Factors; D016896:Treatment Outcome; D014665:Vasodilator Agents / Q000627:therapeutic use
D010975:Platelet Aggregation Inhibitors; D014665:Vasodilator Agents; C048081:beraprost; D003577:Cytochrome P-450 Enzyme System; D011464:Epoprostenol; C472456:PTGIS protein, human