Aims: This study investigates the relationship between β2GPI gene polymorphism and antiphospholipid syndrome (APS) in Chinese subjects. Methods: Twenty-five APS patients, 80 lupus patients and 100 healthy individuals were enrolled into the study. The genetic polymorphism of position 247 of β2GPI gene was analyzed by the restriction fragment length polymorphism polymerase chain reaction. Results: Low frequency of V allele was noted in these Chinese. The frequency of V allele was similar among healthy individuals, lupus patients and APS patients. There was statistically significant correlation between the V allele expression and the presence of anti-β2GPI antibodies. Conclusion: The inter-population differences exist in β2GPI gene polymorphism. Although there was no association of V allele at the position 247 with the Chinese APS patients, significant correlation was found between the V allele expression and the presence of anti-β2GPI antibodies.
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