Produção Nacional
Revisado por pares
Val/Leu 247 Polymorphism of β2‐glycoprotein I in Brazilian Patients with Antiphospholipid Syndrome—A Genetic Risk Factor?
2009; Wiley; Volume: 1173; Issue: 1 Linguagem: Inglês
10.1111/j.1749-6632.2009.04655.x
ISSN1749-6632
AutoresJuliana M. Pernambuco‐Climaco, Maria José Franco Brochado, Max Victor Carioca Freitas, Ana Maria Ferreira Roselino, Paulo Louzada‐Júnior,
Tópico(s)Monoclonal and Polyclonal Antibodies Research
ResumoA genetic polymorphism of the beta2-glycoprotein I (beta2-GPI) is recognized by antiphospholipid antibodies (aPL) and may even play a role in the development of antiphospholipid syndrome (APS). The objectives of this study were to determine a Val/Leu SNP at position 247 of the beta2-GPI gene in Brazilian patients with APS and to compare these data with clinical and laboratory manifestations. Polymorphism assignment was performed by PCR followed by Rsa I restriction endonuclease. The titration of anti-beta2-GPI antibodies was detected by ELISA. The results showed significantly higher frequencies of the V-encoding allele and the homozygous VV genotype in patients with APS than in control subjects (OR = 1.781, P = 0.0068; and OR = 6.413, P < 0.0001, respectively). The frequency of this genotype was also significantly higher in patients with arterial and venous thrombosis than in the control group (52% and 44%, respectively, versus 13%). Anti-beta2-GPI-positive patients had significantly higher frequencies of the VV genotype than the controls subjects (OR = 8.179, P < 0.0001). These results suggest that the V-encoding allele and the homozygous VV genotype at position 247 of the beta2-GPI gene may play a role in the generation of anomalous beta2-GPI, with consequent auto-antibody production, and in phenotype expression of arterial and venous thrombosis in APS patients.
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