Valine/Leucine247 polymorphism of β2-glycoprotein I in patients with antiphospholipid syndrome:: lack of association with anti-β2-glycoprotein I antibodies

In antiphospholipid syndrome (APS) the presence of anti-beta(2)-glycoprotein I (beta(2)GPI) antibodies is strongly associated with thromboembolic complications. It has been suggested that the common beta(2)GPI Valine/Leucine(247) (Val/Leu(247)) polymorphism could be found more commonly in APS and might influence the generation of anti-beta(2)GPI antibodies. Therefore we studied beta(2)GPI Val/Leu(247) single-nucleotide polymorphism ( SNP) by PCR in 338 patients with various autoimmune diseases ( 46 with secondary and 84 with primary APS) and 147 sex and age-matched healthy controls. In all patients lupus anticoagulant, anticardiolipin and anti-beta(2)GPI antibodies ( both IgG and IgM) were also determined. All patients and controls were Caucasians. Frequencies of the SNP genotypes in patients did not depart from genetic equilibrum and did not differ from those found in controls. There was also no association between the presence of beta(2)GPI Val/Leu(247) genotypes and the presence or absence of lupus anticoagulant, anticardiolipin antibodies, anti-beta(2)GPI antibodies or clinical APS symptoms in all patients studied. In conclusion, among the exclusively Caucasian, Polish population of autoimmune patients beta(2)GPI Val/Leu(247)SNP has the same distribution as in healthy subjects and does not influence the production of anti-beta(2)GPI antibodies.