ITGB3 L33P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

ITGB3 L33P

(ITGB3 Leu33Pro)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Bray PF, Cannon CP, Goldschmidt-Clermont P, Moyé LA, Pfeffer MA, Sacks FM, Braunwald E. The platelet Pl(A2) and angiotensin-converting enzyme (ACE) D allele polymorphisms and the risk of recurrent events after acute myocardial infarction. Am J Cardiol. 2001 Aug 15;88(4):347-52. PubMed PMID: 11545752.

 

Undas A, Brummel K, Musial J, Mann KG, Szczeklik A. Pl(A2) polymorphism of beta(3) integrins is associated with enhanced thrombin generation and impaired antithrombotic action of aspirin at the site of microvascular injury. Circulation. 2001 Nov 27;104(22):2666-72. PubMed PMID: 11723016.

 

Abderrazek F, Chakroun T, Addad F, Dridi Z, Gerotziafas G, Gamra H, Hassine M, Elalamy I. The GPIIIa PlA polymorphism and the platelet hyperactivity in Tunisian patients with stable coronary artery disease treated with aspirin. Thromb Res. 2010 Jun;125(6):e265-8. doi: 10.1016/j.thromres.2010.01.011. PubMed PMID: 20138334.

 

Genomes
 

Other external references
 

    PharmGKB
  • [aspirin]
    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.
    www.ncbi.nlm.nih.gov/pubmed/11723016
  • [Myocardial Infarction]
    [pravastatin]
    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.
    www.ncbi.nlm.nih.gov/pubmed/11545752
  • [Coronary Artery Disease]
    [aspirin]
    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%)
    www.ncbi.nlm.nih.gov/pubmed/20138334
    Web search results (98 hits -- see all)
  • Am. J. Epidemiol. -- Trikalinos et al. 163 (4): 300 Table BL1
    28. 7. ITGB3 (L33P): A2A2 + A1A2 vs. A1A1. Fractures. 11. 799. 2,420. 2. 113. 248. 29. 8 ... identification number; IgA, immunoglobulin A; ITGB3, platelet glycoprotein ...
    aje.oxfordjournals.org/cgi/content-nw/full/163/4/300/TBL1
  • GeneCanvas
    ITGB3/E485E. ITGB3/L33P. ITGB3/P268P. ITGB3/R489R. ITGB3/V355V. Back to top K. KCNMB1/E65K. KCNMB1/G-1101T. KCNMB1/G-649A. KCNMB1/G-712A. KCNMB1/V110L. Back to top L ...
    genecanvas.idf.inserm.fr/infusions/.../PolymorphismsList.php
  • Sex-Specific Genetic Architecture of Whole Blood Serotonin Levels
    In that study, we identified a novel QTL, integrin β3 (ITGB3), on chromosome 17q. ... 17 at 66 cM (ITGB3 L33P [dbSNP accession number rs5918]) (table ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1196431
  • Sex-Specific Genetic Architecture of Whole Blood Serotonin Levels
    previously in this population, integrin b3 (ITGB3), and a novel locus on 2q influence ... some 17 at 66 cM (ITGB3 L33P [dbSNP accession num- ber rs5918] ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Impact of Violations and Deviations in Hardy-Weinberg ...
    Coronary artery disease was no longer associated with the L33P polymorphism of ITGB3 (ID 6 in table 1), schizophrenia was no longer associated ...
    aje.oxfordjournals.org/cgi/content/full/163/4/300
  • Evidence Of Common Genetic Determinants For Insulin ...
    J. Cui1, X. Guo1, K.D. Taylor1, S. Cheng2, R. Hughes2, J. Li2, W. ... found to be associated with SI (p=0.038, 0.048), as was SNP L33P in gene ITGB3 (p=0.027) ...
    www.ashg.org/genetics/ashg07s/f10312.htm
  • New York Academy Upcoming Events
    The Neuroscience of Fair Play: Lecture and book signing by author, Donald Pfaff, ... of the ITGB3 polymorphism at residue 33 (ITGB3 L33P) in the development ...
    www.congoo.com/NYAS
  • MUSP.html
    Human cells are diploid, that is, there are two complete sets of chromosomes (23 ... ITGB3 (L33P), A2A2 vs A1A2+A1A1. 17 315 (31) 1·07 (1·00­1·14) 1·10 (0 ...
    www.qimr.edu.au/davidD/Talks/MUSP/MUSP.html
  • Slide 35
    HTR2A (102T/C), CC vs CT+TT. 733 (6) 1·64 (1·18­2·28) 1·65 (1·19­2·29) ... ITGB3 (L33P), A2A2 vs A1A2+A1A1. 17 315 (31) 1·07 (1·00­1·14) 1·10 (0 ...
    www.qimr.edu.au/research/labs/davidd/Talks/MUSP/slide35.html
  • Genomics and the circulation
    Box 3094, Department of Anesthesiology, Duke University Medical ... Integrin, beta 3 (platelet GPIIIa) (ITGB3) L33P (Pl. A1 /Pl. A2. Pl. A2 = sensitivity to ...
    bja.oxfordjournals.org/cgi/reprint/aeh168v1.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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