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Type: | Artigo de periódico |
Title: | Genetic variability of platelet glycoprotein Ib alpha gene |
Author: | Ozelo, MC Costa, DSP Siqueira, LH Machado, TMF Castro, V Goncalves, MS Menezes, RC Soares, M Annichino-Bizzacchi, JM Costa, FF Arruda, VR |
Abstract: | Platelet 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 GPIba 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 (similar to40%) 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. (C) 2004 Wiley-Liss, Inc. |
Subject: | glycoprotein Ib alpha polymorphism platelet genetic diversity |
Country: | EUA |
Editor: | Wiley-liss |
Citation: | American Journal Of Hematology. Wiley-liss, v. 77, n. 2, n. 107, n. 116, 2004. |
Rights: | fechado |
Identifier DOI: | 10.1002/ajh.20148 |
Date Issue: | 2004 |
Appears in Collections: | Unicamp - Artigos e Outros Documentos |
Files in This Item:
File | Description | Size | Format | |
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WOS000224108400001.pdf | 285.87 kB | Adobe PDF | View/Open |
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