From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
|
MI risk, aspirin resistance
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| (C;T)
|
|
MI risk, aspirin resistance
|
| (T;T)
|
0
|
average
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
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 its 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.
[PMID 19786296] Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction
| PharmGKB | PA165291873 |
| Name | ITGB3:1565T>C, ITGB3:Leu33Pro, P1A2, PIA1/PIA2 |
| Annotation | Risk or phenotype-associated genotype: T/T Phenotype: This study investigated the association of ITGB3 SNP with a greater prevalence of platelet hyperactivity (HPR) in stable coronary artery disease. HPR patients with inadequate aspirin inhibition were significantly more often homozygous PlA1/A1 (T/T) (65.4% vs. 47.7%, p=0.015). Study size: 188 Study population/ethnicity: patients with stable coronary artery disease, most of them were males (89.9%), current smokers (71.3%), type 2 diabetics (38.3%) or having hypertension (26.6%) |
| Gene | ITGB3 |
| Featue | |
| Evidence | PubMed ID:20138334 |
| Drugs | aspirin |
| Diseases | Coronary Artery Disease |
| Curation Level | Curated |
[PMID 20406466] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
[PMID 20472470] Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 Polymorphisms on 90-Day Ischemic Stroke Functional Outcome: A Novel Finding
| 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 |
| PharmGKB | PA165108282 |
| Name | ITGB3:1565T>C, ITGB3:Leu33Pro, PI(A2) |
| Annotation | Risk or phenotype-associated allele: C. Phenotype: Patients with the PI(A1A2) genotype (C allele carriers) had a higher risk of secondary coronary events which was reduced by pravastatin. There was also an interaction between PI(A1A2) and the ACE:I/D variant and pravastatin response. Study size: 767. Study population/ethnicity: Subset of Cholesterol And Recurrent Events (CARE) trial, men and women with myocardial infarction receiving placebo or pravastatin. Significance metric(s): . Type of association: CO. |
| Gene | ITGB3 |
| Featue | |
| Evidence | PubMed ID:11545752 |
| Drugs | pravastatin |
| Diseases | Myocardial Infarction |
| Curation Level | Curated |
[PMID 22133274] Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection
[PMID 22270286] Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies
