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Lack of association of β2‐glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications
Author(s) -
Camilleri Raymond S.,
Mackie Ian J.,
Humphries Steve E.,
Machin Samuel J.,
Cohen Hannah
Publication year - 2003
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.04187.x
Subject(s) - pregnancy , medicine , thrombosis , antiphospholipid syndrome , antibody , immunology , obstetrics , genetics , biology
Summary. Beta 2 ‐glycoprotein I (β 2 GPI) is an important target antigen for antiphospholipid antibodies (aPL) and thus β 2 GPI polymorphisms may influence aPL production and the development of antiphospholipid syndrome. We have studied the relationship between the Val247Leu and Trp316Ser β 2 GPI polymorphisms and the aPL status of 230 patients referred for aPL screening. Sixty‐one (26·5%) had persistent aPL [anticardiolipin antibodies (IgG and/or IgM), lupus anticoagulants and/or IgG anti‐β 2 GPI antibodies]. A comparison of the genotypic and allelic frequencies of these two polymorphisms between the Caucasian patient population and an ethnic‐matched normal control group ( n = 308) showed no significant differences between aPL‐positive patients, aPL‐negative patients and the normal control group. This suggests that the Val or Leu allele at position 247 and the Trp or Ser allele at position 316 of β 2 GPI do not play a role in the production of aPL. There was a significantly decreased prevalence of the Ser316 allele in aPL‐negative women ( n = 98) when compared with female normal control subjects ( n = 249) {0·020 [95% confidence interval (CI) 0·00–0·04] vs 0·060 (95% CI 0·04–0·08), P = 0·0286}. Subgroup analysis showed no significant difference between female patients with thrombosis and female normal control subjects. Thus, the Ser316 allele may protect women from developing pregnancy complications by influencing an anticoagulant function of β 2 GPI via a mechanism distinct from aPL production.