Lack of association of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications

Camilleri, R., Mackie, I.J., Humphries, S.E., Machin, S.J. and Cohen, H. 2003. Lack of association of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications. British Journal of Haematology. 120 (6), pp. 1066-1072. https://doi.org/10.1046/j.1365-2141.2003.04187.x

TitleLack of association of β2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications
AuthorsCamilleri, R., Mackie, I.J., Humphries, S.E., Machin, S.J. and Cohen, H.
Abstract

Beta2-glycoprotein I (β2GPI) is an important target antigen for antiphospholipid antibodies (aPL) and thus β2GPI polymorphisms may influence aPL production and the development of antiphospholipid syndrome. We have studied the relationship between the Val247Leu and Trp316Ser β2GPI 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-β2GPI 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 β2GPI 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 β2GPI via a mechanism distinct from aPL production.

JournalBritish Journal of Haematology
Journal citation120 (6), pp. 1066-1072
ISSN0007-1048
YearMar 2003
PublisherWiley
Digital Object Identifier (DOI)https://doi.org/10.1046/j.1365-2141.2003.04187.x
Publication dates
PublishedMar 2003

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