β2糖蛋白I在247位点Val／Leu多态性与中国汉族系统性红斑狼疮患者血栓并发症的相关性研究  

The research of correlation of Val/Leu247 p olymorphism of β2-glycoprotein I and thrombosis in patients with systemic lupus erythematosus in chinese Han population

作　　者：张哲 梁伟 王庭辉[3] 杨亮 许德义 邓刚 黄丹丹 梅传亮 郭雯玉 

机构地区：[1]浙江省宁波市中心血站输血研究所,315041 [2]浙江省宁波市中心检验科,315041 [3]浙江省宁波市第一医院风湿科

出　　处：《中华风湿病学杂志》2013年第12期836-839,I0001,共5页Chinese Journal of Rheumatology

摘　　要：目的探讨β2糖蛋白I（β2GPI）基因多态性与系统性红斑狼疮（SLE）患者血栓并发症的相关关系；明确β2GPI基因多态性与抗β2GH抗体浓度的相关性。方法选择90例首次因诊断SLE收住宁波市第一医院风湿科的住院患者，同时选择宁波市中心血站健康献血员90名作为健康对照组，采用序列特异性引物聚合酶链反应技术（PCR—SSP）检测β2GPI基因多态性，并通过测序确认基因多态性检测的有效性；选用酶联免疫吸附法（ELISA）检测SLE患者组样本抗β2GPI抗体的浓度；基因型频率和等位基因频率的差异采用矿检验。结果SLE有血栓并发症患者、无血栓并发症患者、健康人群的β2GPI247位基因型频率分别为VV 56％，VL38％，LL6％；VV9％，VL70％，LL20％；VV9％，VL67％，LL24％。等位基因频率分别为：V75％，L25％；V45％，L55％；V42％，L58％。有血栓表现的SLE患者与没有血栓症状的SIN患者相比β2GPI247位点V/V基因型和V等位基因频率明显偏高（X^2=15．568，P=0．001；X^2=9．730，P=0．003），而没有血栓表现的SLE患者与健康对照组相比差异无统计学意义（P〉0．05）；β2GPI基因多态性与抗β2GPI抗体浓度有明显的关联性[比值比（0R）=7．143，P=0．001]，抗β2GPI抗体阳性患者中β2GPI247位点V/V基因型频率明显高于阴性患者（X^2=12．321，P=0．001），同时也高于健康对照组（X^2=14．079，P=0．001），但抗β2GPI抗体阴性患者与健康对照组之间差异无统计学意义（P〉0．05）。结论β2GPI在247位V/V基因型对抗β2GPI抗体的产生有强的相关性，并且β2GPI的V/V基因型在SLE血栓患者中频率明显升高。Objective To determine the polymorphism at position 247 of the β2-glycoprotein I （β2GPI） in systemic lupus erythematosus （SLE） patients with and without thrombosis and healthy controls in Chinese Han Population and elucidate the relationship of the polymorphism of β2GPI and the concentration of anti-β2GPI. The correlation between the polymorphism of β2GPI and thrombosis in patients with SLE were further investigated. Methods Ninety cases who were in-patients with SLE of No1 Hospital of Ningbo were selected, while 90 healthy controls who were blood donors volunteers from the Central Blood Station of Ningbo were included into this study. Polymorphism was examined by polymerase chain reaction with sequence-specific primers （PCR-SSP） which was confirmed by sequencing technology. The antibodies （IgG isotype） were tested by ELISA. X^2 test was used for statistical analysis. Results The genotype expressions in SLE patients with and without thrombosis and healthy controls were VV 56%, VL 38%, LL 6%; VV 9%, VL 70%, LL 20%; VV 9%, VL 66.7%, LL 24%. Respectively, while the allele frequencies were V 75%, L 25%; V 45%, L 55%; V 42%, L 58%, respectively. The SLE patients with thrombosis had significantly higher frequencies in the VV genotype and V allele expression than the SLE patients without thrombosis （X^2= 15.568, P=0.001; X^2=9.730, P=0.003） and no differences in the VV genotype and V allele expression between the SLE patients without thrombosis and the healthy controls could be found. In contrast, the levels of anti-β2GPI antibody were related to the VV genotype of β2GPI （OR=7.143, P=0.001 ）, the anti-β2GPI-positive patients had obviously higher frequencies in VV genotype than the negative ones and the healthy controls. Conclusion The study suggests that the β2GPI 247 V/V genotype is strongly correlated with the generation of anti-1~2GPI antibodies. Furthermore, the β2GPI V/V genotype in SLE patients is high in frequency.

关 键 词：红斑狼疮 系统性 Β2糖蛋白I 基因多态性 血栓 中国汉族人群 

分 类 号：R593.241[医药卫生—内科学]