To determine the polymorphism at position 247 of the β₂-glycoprotein I (β₂GPI) gene in patients with systemic lupus erythematosus (SLE) and healthy controls in the Chinese Han Population and elucidate the relationship between β₂GPI polymorphisms and anti-β₂GPI levels, and furthermore investigate the correlation between β₂GPI polymorphisms and thrombosis in patients with SLE.

Methods

The β₂GPI polymorphisms of 300 patients with SLE and 300 healthy controls were examined by single-specific–primer polymerase chain reaction (SSP-PCR), the efficacy of which was confirmed by sequencing technology. Anti-β₂GPI antibodies were tested by enzyme-linked immunosorbent assay. β₂GPI polymorphisms associated with thrombosis and the presence of anti-β₂GPI antibodies were also statistically evaluated with SPSS software.

Results

The genotype expressions and the allele frequencies were obtained in both patients with SLE and healthy controls. The SLE patients with thrombosis had significantly higher frequencies of the VV genotype and V allele than those without thrombosis and the controls, and there were no differences in VV genotype and V allele expression between the SLE patients without thrombosis and the controls. In contrast, the presence of anti-β₂GPI antibody was related to the VV genotype of β₂GPI, and the anti-β₂GPI-positive patients had obviously higher frequencies of the VV genotype than the negative ones and the controls.

Conclusion

The study results suggested that the V/V genotype and the V-encoding allele at position 247 of the β₂GPI gene had strong correlation with the occurrence of thrombosis and the production of the anti-β₂GPI antibodies, showing that the Val²⁴⁷ β₂GPI allele may be one of the genetic risk factors for the development of thrombosis in patients with SLE.

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Volume37, Issue1

February 2015

Pages 22-28

Val/Leu²⁴⁷ polymorphism of β₂-glycoprotein I and thrombosis in Chinese patients with SLE

Summary

Introduction

Methods

Results

Conclusion

References

References

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Val/Leu247 polymorphism of β2-glycoprotein I and thrombosis in Chinese patients with SLE

Summary

Introduction

Methods

Results

Conclusion

References

References

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Val/Leu²⁴⁷ polymorphism of β₂-glycoprotein I and thrombosis in Chinese patients with SLE