温州汉族SLE患者载脂蛋白H基因Leu247Val多态性与抗磷脂抗体的相关性研究  

Relationship between the valine/leucine247 polymorphism of apolipoprotein H gene and generation of an- tiphospboHpid antibodies in patients of Han nationality with systemic lupus erythenmtosns in Wenzhou region

作　　者：朱丽青[1] 谢海啸[1] 杨丽红[1] 金艳慧[1] 胡王强[1] 王明山[1] 施红英[2] 徐鹏飞[1] 朱小春[3] 

机构地区：[1]温州医学院附属第一医院实验诊断中心,325000 [2]温州医学院附属第一医院风湿免疫科,325000 [3]温州医学院预防医学与公共卫生学院

出　　处：《中华皮肤科杂志》2013年第1期16-19,共4页Chinese Journal of Dermatology

基　　金：浙江省温州市科技计划资助项目（Y20100230）

摘　　要：目的探讨aport第7号外显子G817T（Leu247Val）的多态性与温州地区汉族SLE患者抗磷脂抗体产生的关系。方法收集温州地区汉族SLE患者165例及健康体检者160例，PCR技术及DNA测序技术检测aport第7号外显子G817T（IJeu247val）的多态性；蝰蛇毒试验法测定狼疮抗凝物（LAC）比值，ELISA法测定其抗B2糖蛋白I（132GPI）抗体及抗心磷脂抗体（ACA）。用Logistic回归分析Leu247Val多态性与抗磷脂抗体（APL）的关系。结果SLE患者组与健康对照组G817T位点的基因型构成及等位基因频率差异有统计学意义（P值均〈0．01），患者组TY、GT基因型及T等位基因频率较高，而GG基因型及G等位基因频率偏低。G817T位点的基因型分布与LAC，抗[32GPI抗体及ACA的阳性均有关（P值〈0．05，〈0．01，〈0．05）。GT基因型是LAC（P〈0．05，OR=2．33，95％CI1．18～4．59）、抗132GPI抗体（P〈0．01，OR=5．92，95％CI2．61。13．46）及ACA（P〈0．05，OR=2．52，95％口1．22—5．24）产生的危险因素。TT基因型是抗[32GPI抗体的危险因素（P〈0．01，OR=5．84，95％CI1．69～20．20）。结论温州地区汉族SLE患者aport第7号外显子G817T（Leu247val）位点的多态性与APL产生有关，GT、TT基因型是APL产生的危险因素。Objective To study the relationship between the valine/leucine247 （817G/T） polymorphism in exon 7 of apolipoprotein H （aport） gene and the generation of antiphospholipid（APL）antibodies in patients of Han nationality with systemic lupus erythematosus （SLE） in Wenzhou region. Methods This study included 165 patients with SLE and 160 healthy controls of Han nationality in Wenzhou region. Venous blood samples were obtained from all of the subjects followed by the isolation of blood plasma, sera and white blood cells. PCR and DNA sequencing were carried out to assess the Leu/Va1247 polymorphism in aport gene. Lupus anticoagulant （LAC） was detected by Russell viper venom time （RVVT） assay. Enzyme-linked immunosorbent assay （ELISA） was carried out to quantify the serum levels of anti-132-glycoprotein I （GPI） antibodies and antieardiolipin antibodies （ACA）. Chi-square test was carried out to compare the 817G/T polymorphism between the patients and controls, and Logistic regression analysis to evaluate the correlation between the 817G/T polymorphism and production of antiphospholipid antibodies. Results There were significant differences between the patients and controls in the genotype distribution and allele frequency at position 817 of aport gene （both P 〈 0.01 ）. The TY, GT genotypes and T allele were more frequent, while GG genotype and G allele were less frequent, in the patients than in the controls. The GT genotype at position 817 was a risk factor for the production of LAC （P 〈 0.05, OR = 2.33, 95%CI = 1.18 - 4.59）, anti-132GPI antibodies （P 〈 0.01, OR = 5.92, 95%CI = 2.61 - 13.46） and ACA（P 〈 0.05, OR = 2.52, 95%CI = 1.22 - 5.24）, and the TT genotype was associated with an increased frequency of anti-132GPI antibodies （P 〈 0.01, OR = 5.84, 95%CI = 1.69 - 20.20）. Conclusions The 817G/T（Leu/Va1247） polymorphism in exon 7 of aport gene is associated with the generation of APL antibodies in patients of Han nationality with SLE in Wenzhou region. T

关 键 词：红斑狼疮 系统性 Β2糖蛋白I 基因 狼疮凝固抑制物 

分 类 号：R593.241[医药卫生—内科学]