Correlation between β2-glycoprotein I valine/leucine247 polymorphism and anti-β2-glycoprotein I antibodies in patients with primary antiphospholipid syndrome

Abstract
Objectives. β2-Glycoprotein I (β2GPI) exon 7 polymorphism leads to a valine–leucine amino acid exchange at position 247 in domain 5 of β2GPI, between the phospholipid binding site and the cryptic site of the epitopes for anti-β2GPI antibodies. Therefore, position 247 polymorphism may affect the conformational change of β2GPI and the exposure of the epitopes for anticardiolipin antibodies (aCL) (= anti-β2GPI antibodies). In this study we analysed the genetic polymorphism of β2GPI in a British cohort of well-defined antiphospholipid syndrome (APS) patients.