Swadzba J, Sanak M, Iwaniec T, Dziedzina S, Musiał J
Department of Medicine, Jagiellonian University School of Medicine, Krakow, Poland.
Lupus. 2006;15(4):218-22. doi: 10.1191/0961203306lu2288oa.
In antiphospholipid syndrome (APS) the presence of anti-beta2-glycoprotein I (beta2GPI) antibodies is strongly associated with thromboembolic complications. It has been suggested that the common beta2GPI Valine/Leucine247 (Val/Leu247) polymorphism could be found more commonly in APS and might influence the generation of anti-beta2GPI antibodies. Therefore we studied beta2GPI Val/Leu247 single-nucleotide polymorphism (SNP) by PCR in 338 patients with various autoimmune diseases (46 with secondary and 84 with primary APS) and 147 sex and age-matched healthy controls. In all patients lupus anticoagulant, anticardiolipin and anti-beta2GPI antibodies (both IgG and IgM) were also determined. All patients and controls were Caucasians. Frequencies of the SNP genotypes in patients did not depart from genetic equilibrum and did not differ from those found in controls. There was also no association between the presence of beta2GPI Val/Leu247genotypes and the presence or absence of lupus anticoagulant, anticardiolipin antibodies, anti-beta2GPI antibodies or clinical APS symptoms in all patients studied. In conclusion, among the exclusively Caucasian, Polish population of autoimmune patients beta2GPI Val/Leu247SNP has the same distribution as in healthy subjects and does not influence the production of anti-beta2GPI antibodies.
在抗磷脂综合征（APS）中，抗β2糖蛋白I（β2GPI）抗体的存在与血栓栓塞并发症密切相关。有人提出，常见的β2GPI缬氨酸/亮氨酸247（Val/Leu247）多态性在APS中可能更常见，并且可能影响抗β2GPI抗体的产生。因此，我们通过聚合酶链反应（PCR）研究了338例患有各种自身免疫性疾病的患者（46例继发性APS和84例原发性APS）以及147例年龄和性别匹配的健康对照者的β2GPI Val/Leu247单核苷酸多态性（SNP）。在所有患者中还测定了狼疮抗凝物、抗心磷脂抗体和抗β2GPI抗体（IgG和IgM）。所有患者和对照者均为白种人。患者中SNP基因型的频率未偏离遗传平衡，与对照组的频率无差异。在所研究的所有患者中，β2GPI Val/Leu247基因型的存在与狼疮抗凝物、抗心磷脂抗体、抗β2GPI抗体的存在与否或临床APS症状之间也没有关联。总之，在纯为白种人的波兰自身免疫性疾病患者群体中，β2GPI Val/Leu247 SNP的分布与健康受试者相同，并且不影响抗β2GPI抗体的产生。
