Genetic variability of platelet glycoprotein Ibalpha gene

dc.creatorOzelo, Margareth Castro
dc.creatorCosta, Devanira de Souza Paixão
dc.creatorSiqueira, Lucia Helena
dc.creatorMachado, Tania M F
dc.creatorCastro, Vagner
dc.creatorGonçalves, Marilda de Souza
dc.creatorMenezes, Raimundo C
dc.creatorSoares, Manoel
dc.creatorBizzacchi, Joyce M Annichino
dc.creatorCosta, Fernando F
dc.creatorArruda, Valder Roberval
dc.date2017-06-12T16:12:55Z
dc.date2017-06-12T16:12:55Z
dc.date2004
dc.date.accessioned2023-09-26T22:37:33Z
dc.date.available2023-09-26T22:37:33Z
dc.identifierOZELO, M. C. et al. Genetic variability of platelet glycoprotein Ibalpha gene. American Journal of Hematology, v. 77, p. 107–116, 2004.
dc.identifier0361-8609
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/19369
dc.identifier10.1002/ajh.20148
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8881173
dc.descriptionGonçalves, Marilda de Souza “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
dc.descriptionPlatelet membrane glycoprotein (GP) Ibalpha is a critical component of platelet adhesion complex to subendothelium structures following tissue injury or pathological surfaces, such as atherosclerotic plaques. Polymorphisms of the GPIbalpha gene have been associated with a high risk for occlusive vascular disease, and its distribution varies considerably among distinct populations. These polymorphisms comprise the human platelet antigen (HPA)-2 system, the -5C/T dimorphism of the Kozak sequence, and the variable number of tandem 39-bp repeats (VNTR). Here we report the prevalence of the GPIbalpha gene polymorphisms among Brazilians, a highly ethnically diverse population. We analyzed 492 subjects of European, African, or Indigenous origin. It was possible to determine ten distinct haplotypes. The most common ( reverse similar 40%) haplotype was the Kozak-TT/HPA-2aa/VNTR-CC for both Caucasian and African descent. However, among Indigenous, Kozak-TT/HPA-2aa/VNTR-CC and Kozak-TC/HPA-2aa/VNTR-CC were equally present. Although a strong linkage disequilibrium between VNTR and HPA-2 polymorphism had also been observed, here we determined incomplete linkage disequilibrium in 10% of subjects from all ethnic groups. VNTR-E, a rare variant lacking the 39-bp repeat, was identified in two unrelated subjects, and functional platelet studies revealed no abnormalities. The VNTR-A allele, the largest variant containing four copies of the repeats, was not identified in this population. However, homozygosity for the VNTR-A allele (Kozak-TT/HPA-2aa/VNTR-AA) was determined in two distinct species of nonhuman primates. These results suggest a greater complex evolutionary mechanism in the macroglycoprotein region of the GPIbalpha gene and may be useful in the design of gene-disease association studies for vascular disease.
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley
dc.rightsopen access
dc.subjectGlicoproteína Ib alfa
dc.subjectPolimorfismo
dc.subjectPlaquetas
dc.subjectDiversidade genética
dc.subjectGlycoprotein Ib alpha
dc.subjectPolymorphisms
dc.subjectPlatelet
dc.subjectGenetic diversity
dc.subjectGlicoproteína
dc.subjectPolimorfismo
dc.subjectPlaquetas
dc.subjectDiversidade genética
dc.titleGenetic variability of platelet glycoprotein Ibalpha gene
dc.typeArticle


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