From SNPedia
The 'A2' allele of the platelet specific alloantigen system is encoded by
rs5918(C), and it has been implicated as increasing the risk of
myocardial infarctions,
heart disease, and resistance to blood-thinning benefits of
aspirin.
On it's own, the A2 allele is implicated especially in early onset heart disease [PMID 8598867]; in combination with the 4G allele of the PAI1 gene, rs1799889, the increased risk of myocardial infarction in a Finnish study population was 4 fold higher (odds ratio = 4.5, p=0.001), particularly in males (odds ratio = 6.4, p=0.0005) [PMID 9700201].
A2 allele carriers also appear to be relatively resistant to the anti-thrombotic (i.e. anti-clotting) actions normally associated with aspirin use.[PMID 11723016]
A protective effect of rs5918 has also been observed for the development of Non-Hodgkin Lymphoma, both for the SNP (which is also known as L59P) and for its gene, ITGB3. The odds ratio is 0.66 (CI: 0.52-0.85).[PMID 17827388]
[PMID 19876733] rs5918 is not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers, based on a multi-center study including ~10,000 patients from 34 studies.
| ? | (C;C) (C;T) (T;T) |
|---|
 |
[PMID 19786296] Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction
| PharmGKB | PA165108281 |
| Name | ITGB3:1565T>C, ITGB3:Leu33Pro, P1A2, PIA1/PIA2, Leu33Pro polymorphism of ?3 integrins, GP3A PIA2, GP IIIa HPA-1, HPA-1b |
| Annotation | Risk or phenotype-associated allele: C. Phenotype: In a study of clotting times of microvascular injury, the P1A2 allele (C variant) was associated with shorter bleeding time and less response to aspirin. Study size: 24. Study population/ethnicity: Healthy males 21-24 years. Significance metric(s): p = 0.003. Type of association: PD. |
| Gene | ITGB3 |
| Featue | |
| Evidence | PubMed ID:11723016 |
| Drugs | aspirin |
| Diseases | |
| Curation Level | Curated |
