Val247Leu and Trp316Ser poly morphisms of β2-glycoprotein Ⅰ in systemic lupus erythematosus patients and their associations with antiphospholipid antibodies and thrombotic complications / 中华风湿病学杂志

ABSTRACT

Objective To study the Val247Leu and Trp316Ser polymorphisms of β2-glycoprotein Ⅰ(β2GPⅠ) in systemic lupus erythematosus (SLE) patients and their associations with antiphospholipid antibodies and thrombotic complications.Methods We used DNA sequencing to detect the polymorphisms of Val247Leu and Trp316Ser in 378 SLE patients and 240 normal controls.Anti-β2GP Ⅰ antibodies and anticardiolipin (ACA) were tested by enzyme linked immunosorbent assay (ELISA).Lupus-type anticoagulants(LAC) was performed by diluted Russell's Viper Venom Test.Then the patient group was further analyzed according to APLs (Anti-β2GP Ⅰ antibody,LAC and ACA),thrombosis and obstetrical complications using Logistic regression analysis to confirm whether there are associations between β2GPⅠpolymorphism and those factors.Results For Va1247Leu,the predominant genotype was LL in healthy controls which accounted for 57.08％,while it was VL in SLE patients which accounted for 59.5％ (x2=45.01,P=0.000).Frequency of VV genotype was significantly higher in patients with thrombosis,anti-β2GP Ⅰ,ACA and obstetrical complications (OR=6.79,3.75,2.12 and 3.85,respectively;P=0.000,0.001,0.044 and 0.017,respectively).Those patients with VL genotype tended to have positive anti-β2GPI,LAC,ACA,thrombosis and also obstetrical complications (OR=2.95,1.88,2.47,2.97 and 2.74,respectively;P=0.000,0.007,0.000,0.001 and 0.016,respectively) than those negative ones.The predominant genotype of Trp316Ser was TT,then TS.No correlations could be found between Trp316Ser polymorphism and APLs,neither relation to thrombosis complications.Conclusion The polymorphism of Val247Leu is significantly associated with the presence of APLs,thrombosis and obstetrical complications.Both VV and VL genotype are risk factors for the generation of APLs,occurrence of thrombosis and obstetrical complications.The VV genotype is a high risk factor for thrombosis.Trp316Ser polymorphism does not contribute to the APLs production and also have no correlations with thrombotic complication.