{{Rsnum
|rsid=5918
|Gene=ITGB3
|Chromosome=17
|position=47283364
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.09137
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ITGB3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 1.8 | 23.9 | 74.3
| HCB | 0.0 | 1.5 | 98.5
| JPT | 0.0 | 2.3 | 97.7
| YRI | 2.1 | 21.4 | 76.6
| ASW | 5.3 | 14.0 | 80.7
| CHB | 0.0 | 1.5 | 98.5
| CHD | 0.0 | 0.9 | 99.1
| GIH | 1.0 | 15.8 | 83.2
| LWK | 2.7 | 23.6 | 73.6
| MEX | 1.7 | 19.0 | 79.3
| MKK | 3.2 | 28.2 | 68.6
| TSI | 3.9 | 24.5 | 71.6
| HapMapRevision=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}}. Olympic skater Sergei Grinkov, who had this risk factor, died of a heart attack at age 28. [http://esgweb1.nts.jhu.edu/press/1996/JUNE/199603.HTM]

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|OA=1
}}

{{PMID|19876733|OA=1
}} [[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.

{{omim
|desc=PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
|id=173470
|rsnum=5918
|variant=0006
}}

{{PMID Auto
|PMID=19786296
|Title=Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction
}}

{{PharmGKB
|RSID=rs5918
|Name_s=ITGB3:1565T>C, ITGB3:Leu33Pro, P1A2, PIA1/PIA2
|Gene_s=ITGB3
|Feature=
|Evidence=PubMed ID:20138334
|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%)
|Drugs=aspirin
|Drug Classes=
|Diseases=Coronary Artery Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA165291873
}}

{{PMID Auto
|PMID=20406466
|Title=Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
|OA=1
}}
{{PMID Auto
|PMID=20472470
|Title=Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 Polymorphisms on 90-Day Ischemic Stroke Functional Outcome: A Novel Finding
}}

{{PharmGKB
|RSID=rs5918
|Name_s=ITGB3:1565T>C, ITGB3:Leu33Pro, P1A2, PIA1/PIA2, Leu33Pro polymorphism of ?3 integrins, GP3A PIA2, GP IIIa HPA-1, HPA-1b
|Gene_s=ITGB3
|Feature=
|Evidence=PubMed ID:11723016
|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.
|Drugs=aspirin
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165108281
}}

{{PharmGKB
|RSID=rs5918
|Name_s=ITGB3:1565T>C, ITGB3:Leu33Pro, PI(A2)
|Gene_s=ITGB3
|Feature=
|Evidence=PubMed ID:11545752
|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.
|Drugs=pravastatin
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Curated
|PharmGKB Accession ID=PA165108282
}}

{{PMID Auto
|PMID=22133274
|Title=Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection
|OA=1
}}

{{PMID Auto
|PMID=22270286
|Title=Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies
}}

{{ClinVar
|rsid=5918
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=45360730
|CHROM=17
|GMAF=0.0916
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05036800000015051f110101
|GENEINFO=ITGB3:3690
|GENE_NAME=ITGB3
|GENE_ID=3690
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.45360730T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=173470.0006
|CLNSIG=255
|CLNCUI=C0027051
|CLNDBN=PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM; Thrombocytopenia, neonatal alloimmune; Posttransfusion purpura; Myocardial infarction; Fracture, hip, susceptibility to
|Disease=PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM; Thrombocytopenia; Posttransfusion purpura; Myocardial infarction; Fracture
|CLNACC=RCV000014519.2; RCV000014520.19; RCV000014521.25; RCV000014522.2; RCV000014524.2
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9086; 0.09137
|CLNDSDB=MedGen; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0473780; C0398648; C0027051:608446:22298006; C2674640
|COMMON=1
}}

{{PMID Auto
|PMID=17107626
|Title=Comparison of PrASE and Pyrosequencing for SNP Genotyping.
|OA=1
}}

{{PMID Auto
|PMID=17999363
|Title=Multifactor dimensionality reduction-phenomics: a novel method to capture genetic heterogeneity with use of phenotypic variables.
|OA=1
}}

{{PMID Auto
|PMID=18035074
|Title=Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.
}}

{{PMID Auto
|PMID=18045240
|Title=Immunologic and structural analysis of eight novel domain-deletion beta3 integrin peptides designed for detection of HPA-1 antibodies.
}}

{{PMID Auto
|PMID=18513389
|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine.
|OA=1
}}

{{PMID Auto
|PMID=20031584
|Title=Genetics of atherothrombotic and lacunar stroke.
|OA=1
}}

{{PMID Auto
|PMID=21353223
|Title=Association of the platelet GPIIb/IIIa polymorphism with atherosclerotic plaque morphology: the Atherosclerosis Risk in Communities (ARIC) Study.
|OA=1
}}

{{PMID Auto
|PMID=22015659
|Title=Mean platelet volume and integrin alleles correlate with levels of integrins alpha(IIb)beta(3) and alpha(2)beta(1) in acute coronary syndrome patients and normal subjects.
}}

{{GET Evidence
|gene=ITGB3
|aa_change=Leu59Pro
|aa_change_short=L59P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5918
|overall_frequency_n=1452
|overall_frequency_d=10758
|overall_frequency=0.134969
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=14
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.02
|genetests_testable=Y
|nblosum100=7
|autoscore=2
|n_web_uneval=8
}}

{{PMID Auto
|PMID=24289603
|Title=Investigation of ICAM-1 and β3 Integrin Gene Variations in Patients with Brain Tumors
}}

{{PMID Auto
|PMID=23533563
|Title=Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=23628433
|Title=Genetic association and gene-gene interaction analyses suggest likely involvement of ITGB3 and TPH2 with autism spectrum disorder (ASD) in the Indian population.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}