肽酰基精氨酸脱亚胺酶4基因多态性与类风湿性关节炎及抗环瓜氨酸化蛋白抗体的相关性研究  

Association of polymorphism of peptidylarginine deiminase4 (PADI4) gene with rheumatoid arthritis and anti-cyclic citrullinated peptide antibody

作　　者：崔刘福[1] 袁伟[1] 杨文浩[1] 舒荣[1] 宋海澄[1] 韩依轩[1] 于萍[1] 王建[1] 王洁蕊[1] 

机构地区：[1]华北煤炭医学院附属开滦医院风湿免疫科,河北唐山063000

出　　处：《中国中医基础医学杂志》2011年第6期630-632,共3页JOURNAL OF BASIC CHINESE MEDICINE

基　　金：河北省科技厅科技攻关项目(10276105D-70)

摘　　要：目的:探讨肽酰基精氨酸脱亚胺酶(PADI)4基因padi4_94位点的单核苷酸多态性(SNP)与河北汉族人群类风湿关节炎(RA)易感性的关系及与抗环瓜氨酸化蛋白(CCP)抗体的相关性。方法:应用聚合酶链反应-连接酶检测反应技术(PCR-LDR)对134例RA患者和140例健康对照组中PADI4基因的padi4_94位点进行SNP分型,以酶联免疫吸附实验(ELISA)法检测RA患者血清中的抗CCP抗体。结果:RA患者中padi4_94位点各基因型分布与正常对照组比较差异具有统计学意义(P<0.05),在所用病例对照人群中携带AG基因型者患RA的可能性是GG基因型的2.010倍(OR=2.010,95%CI=1.162-3.476),A等位基因可能为RA的易感等位基因(P<0.05)。抗CCP抗体的阳性率在携带RA易感等位基因A阳性患者中高于阴性患者,差异具有统计学意义(P<0.01),且携带A等位基因的阳性组患者中抗CCP抗体滴度明显高于阴性组患者,差异具有统计学意义(P<0.05)。结论:padi4_94位点AG基因型与RA具有相关性,其中A等位基因在河北汉族人群中为RA的易感等位基因。且携带A等位基因的患者血清中抗CCP抗体的阳性率和滴度均较不携带A等位基因的患者高。Objective：To investigate the association of single nucleotide polymorphisms in peptidylarginine deiminase4 （PADI4） with rheumatoid arthritis（RA） and anti cyclic citrullinated peptide（CCP） antibody in Han population of Hebei province. Methods 134 patients with RA and 140 with the healthy subjects were examined separately with polymerase chain reaction-ligase detection reaction （PCR-LDR）. anti-CCP antibody serum titres were measured by the anti-CCP enzyme linked immunosorbent assay（ELISA）. Results The genotype frequencies of the padi4_94 in RA group were statistically different from those in control subjects（P = 0. 035） so the A allele might be the susceptive gene of RA（P = 0. 037）. For dichotomous analysis,there was significant difference between padi4_94 A alleles and padi4_94 G alleles （P = 0. 006） , we observed more anti-CCP positive samples in the pooled padi4_94 A alleles and fewer positive samples in the padi4_94 G alleles. For continue analysis, there was significant difference in anti-CCP titres between A alleles and G alleles （P = 0. 023）. Conclusions：AG genotype of padi4_94 is correlated with the RA in Han population of Hebei . The A allele of padi4-94 is related to the susceptibility of RA. There is correlation between padi4 A allele and serum anti-CCP antibody, either by continuous analysis using the titres or by dichotomous analysis using the diagnostic cut off.

关 键 词：类风湿性关节炎 肽酰基精氨酸脱亚胺酶4基因多态性 病例对照研究 抗环瓜氨酸化蛋白抗体 

分 类 号：R593.22[医药卫生—内科学]