肽酰基精氨酸脱亚氨酶-4基因多态性与类风湿关节炎的相关性

目的 肽酰基精氨酸脱亚氨酶基因4-94位点(PADI4-94)和4-104位点(PADI4-104)基因的单核苷酸多态性(SNPs)与类风湿关节炎(RA)易感性的关系.方法 采用聚合酶链反应-连接酶检测反应(PCR-LDR)方法 鉴定116例RA患者和100名健康体检者基因及基因型,计算其频率,用X2检验统计分析.用酶联免疫吸附试验(ELISA)法检测RA外周血抗PADl4抗体及PADI4蛋白水平.结果①PADI4-94及PADI4-104位点存在A和G 2种等位基因,A/A,G/G和A/G 3种基因型,RA组/健康组PADI4-94等位基因A、G及其A/A、G/G和A/G基因型频率分别是0.460/0.392、0.540/0.608,0.204/0.186、0.283/0.402和0.513/0.412,2组差异无统计学意义(X2=1.996,P=0.157;X2=3.407,P=0.182);RA组/健康组PADI4-104等位基因A、G及其A/A、G/G和A/G基因型频率分别是0.412/0.345、0.588/0.655,0.150/0.144、0.32710.454和0.522/0.402,2组差异无统计学意义(X2=1.937,P=0.164;X2=3.780,P=0.151).③RA组PADI4-94/PADI4-104各基因型间红细胞沉降率(ESR),RA疾病活动关节评分28(DAS28)评分,C反应蛋白(CRP),抗环瓜氨酸肽(CCP)抗体,PADI4蛋白量及抗PADI4抗体水平差异无统计学意义(P值分别为0.46/0.67,0.62/0.57,0.12/0.23,0.81/0.43,0.78/0.75,0.38/0.31).结论 我国人群PADI4-94和PADI4-104两位点存在多态性,但其与RA的易感性无关.

Association of polymorphism of peptidylarginine deaminase-4 gene and rheumatoid arthritis

Objective To investigate the distribution characteristics of single nucleotide polymorphisms (SNPs) of peptide arginine deaminase4 (PADI4)-94 and PADI4-104 with rheumatoid arthritis(RA)and study the association between PADI4-94/PADI4-104 SNPs and RA susceptibility.Methods PCR-LDR was used to identify the gene and genotype of 116 rheumatoid arthritis patients and 100 healthy controls and calculated the frequencies.Chi-square test was used to analyze the statistical significance.The presence of anti-PADI4 and PADI4 protein in the peripheral blood of patients with RA was examined using enzyme-linked three kinds of genotypes (A/A,G/G and A,G),PADI4-94 allele A,G and A/A,C/G and A/G genotype frequencies in RA group and healthy controls were 0.460/0.392,0.540/0.608,0.204/0.186,0.283/0.402 and 0.513/0.412,respectively.There was no significant difference between the two groups (X2=1.996,P=0.157;X2=3.407,P=0.182);PADI4-104 allele A,G and A/A,G/G and A/G genotype frequencies in RA group and healthy controls were 0.412/0.345,0.588/0.655,0.150/0.144,0.327/0.454 and 0.522/0.402,respectively.There no significant differences between PADI4-94/PADI4-104 genotypes and ESR,DAS28 score,CRP,anti-CCP antibodies,PADI4 protein,and anti-PADI4 antibodies(P values were 0.46/0.67,0.62/0.57,0.12/0.23,0.81/0.43,0.78/0.75,0.38/0.31).Conclusion The SNPs of PADI4-94 and PADI4-104 in Chinese RA population can be identified,but they may not be the susceptibility genotypes of RA.