Rheumatology 1999; 38: 721-723
© 1999 British Society for Rheumatology
Correlation between ß2-glycoprotein I valine/leucine247 polymorphism and anti-ß2-glycoprotein I antibodies in patients with primary antiphospholipid syndrome
Department of Medicine II, Hokkaido University School of Medicine, Sapporo, Japan and
1 Lupus Research Unit, The Rayne Institute, St Thomas' Hospital, London, UK
Correspondence to:
A. Tsutsumi, Department of Medicine II, Hokkaido University School of Medicine, N15 W7, Kitaku, Sapporo 060, Japan.
Objectives. ß2-Glycoprotein I (ß2GPI) exon 7 polymorphism leads to a valine–leucine amino acid exchange at position 247 in domain 5 of ß2GPI, between the phospholipid binding site and the cryptic site of the epitopes for anti-ß2GPI antibodies. Therefore, position 247 polymorphism may affect the conformational change of ß2GPI and the exposure of the epitopes for anticardiolipin antibodies (aCL) (= anti-ß2GPI antibodies). In this study we analysed the genetic polymorphism of ß2GPI in a British cohort of well-defined antiphospholipid syndrome (APS) patients.
Methods. This study comprised 88 Caucasoid patients with APS [57 with primary APS and 31 with APS secondary to systemic lupus erythematosus (SLE)]. Polymorphism assignment was determined by polymerase chain reaction followed by allele-specific restriction enzyme digestion (PCR-RFLP). The presence of anti-ß2GPI antibodies was detected by ELISA utilizing irradiated ELISA plates.
Results and conclusions. Anti-ß2GPI antibodies were present in 28 of 57 primary APS patients (49%) and in 19 of 31 secondary APS patients (61%). The allele containing valine247 was significantly more frequent in primary APS patients with anti-ß2GPI antibodies than in controls (OR=2.51, 95% CI 1.03–6.13, P=0.0396) or in primary APS patients without anti-ß2GPI antibodies (OR=2.92, 95% CI 1.16–7.39, P=0.0204). This tendency was not found in the secondary APS group. In conclusion, the ß2GPI polymorphism, valine/leucine247 , is correlated with anti-ß2GPI antibody production in patients with primary APS, and valine247 may be important in the formation of ß2GPI antigenicity.
KEY WORDS: Thrombosis, Genotype, Systemic lupus erythematosus, Anticardiolipin antibody, Conformational change.
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