| Title | Val/Leu247 polymorphism of beta2-glycoprotein I in Brazilian patients with antiphospholipid syndrome--a genetic risk factor? | | Author(s) | Pernambuco-Climaco JM, Brochado MJ, Freitas MV, Roselino AM, Louzada-Junior P | | Institution | Department of Clinical Medicine, Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil. | | Source | Ann N Y Acad Sci 2009 Sep.:509-14. | | Abstract | A 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 19758193 |
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