|(A;A)||0.5||normal risk of MI|
|(A;G)||1||1.75x risk of MI|
|(G;G)||1.75||1.75x risk of MI|
|?||(A;A) (A;G) (G;G)||28|
This SNP, located on chromosome 2 in a gene (VAMP8) associated with platelet activation, may be associated with early onset myocardial infarction (MI). The risk allele for this SNP (in dbSNP orientation) is rs1010(G), with an odds ratio of 1.75 (CI: 1.17â€“2.62). [PMID 16690874]
Furthermore, this SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD).
- rs20455, in the KIF6 gene
- rs3900940, in the MYH15 gene
- rs7439293, in the PALLD gene
- rs2298566, in the SNX19 gene
- rs1010, in the VAMP8 gene
For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 possible risk variants (two copies of each of the five SNPs) were assigned a GRS of 5 and those carrying no risk variants a GRS of -5. A high GRS was defined as 3 or higher. Approximately 4% of the white cohort in ARIC was classified as high risk, and the hazard ratio for CHD after adjustment for traditional risk factors was a significant 1.57 (CI: 1.21-2.04; p<0.001). The results did not reproduce for African American participants.[PMID 18073581]
[PMID 19752551] Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry
[PMID 22192511] KIF6, LPA, TAS2R50, and VAMP8 genetic variation, low density lipoprotein cholesterol lowering response to pravastatin, and heart disease risk reduction in the elderly
[PMID 17767904] Genetic and genomic insights into the molecular basis of atherosclerosis.
[PMID 18599554] Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.
[PMID 19374688] No influence of the VAMP8 rs1010 single nucleotide polymorphism on platelet functions in vitro.
[PMID 19943878] VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA.
[PMID 22676277] Vascular associated gene variants in patients with preeclampsia: results from the Danish National Birth Cohort
[PMID 30945947] Association of VAMP8 rs1010 Polymorphism with Host Susceptibility to Pulmonary Tuberculosis in a Chinese Han Population.
[PMID 32556890] Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population.