VIP Variant in PTGIS
This variant is a synonymous SNP at codon 373 (Arg373Arg) in exon 8 of the PGTIS gene. It was identified by Nakayama T. et al. in 2002 and was demonstrated to be significantly associated with the prevalence of myocardial infarction (MI) [Article:12040339]. In this association study of 138 patients and 130 controls, logistic regression analysis showed that distribution of genotypes was significantly different between the control and MI group, with CC genotype representing a risk factor for MI. In a large study comprised of 4853 Japanese participants, the C1117A polymorphism has been significantly associated with hypertension, with the C allele representing a risk factor for this condition [Article:17070428]. Since this polymorphism does not cause an amino acid change, it is unlikely to affect prostacyclin synthase activity or expression. This variant may be a marker that is in linkage disequilibrium with other variants in PTGIS or adjacent genes that confer susceptibility to hypertension and other conditions.
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Biological Intermediate (1)
prostaglandin H2
|
| Diseases | Hypertension Myocardial Infarction |
Appendix
*2. PTGIS: C1117A (1117C>A, 1171A>C, CYP8A1*1B) (rs5629)*
| Genomic Variant & GenBank ID: | C>A at 13182614 on NT_011362 |
|---|---|
| mRNA Variant & GenBank ID: | C>A at 1171 on NM_000961 |
| Protein Variant & GenBank ID: | R>R at 373 on NP_000952 |
| GoldenPath Position: | chr20:47563113;(hg18) |
Publications related to rs5629 at chr20:48129706: 3
| Assessment of the genetic component of hypertension. American journal of hypertension. 2006. Yamada Yoshiji, et al. [Article:17070428@PubMed] | |
| Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction. American heart journal. 2002. Nakayama Tomohiro, et al. [Article:12040339@PubMed] | |
| Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacylcin synthase gene (CYP8A1). Human genetics. 2001. Chevalier D, et al. [Article:11281454@PubMed] |
Cross-References
- UCSC Golden Path:
- chr20:48129706
- dbSNP:
- rs5629
- HapMap:
- rs5629
Platform Availability
- Affymetrix