CAJ | 학술논문

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.
목적 태선기정안산탈아안매기인4-94위점(PADI4-94)화4-104위점(PADI4-104)기인적단핵감산다태성(SNPs)여류풍습관절염(RA)역감성적관계.방법 채용취합매련반응-련접매검측반응(PCR-LDR)방법 감정116례RA환자화100명건강체검자기인급기인형,계산기빈솔,용X2검험통계분석.용매련면역흡부시험(ELISA)법검측RA외주혈항PADl4항체급PADI4단백수평.결과①PADI4-94급PADI4-104위점존재A화G 2충등위기인,A/A,G/G화A/G 3충기인형,RA조/건강조PADI4-94등위기인A、G급기A/A、G/G화A/G기인형빈솔분별시0.460/0.392、0.540/0.608,0.204/0.186、0.283/0.402화0.513/0.412,2조차이무통계학의의(X2=1.996,P=0.157;X2=3.407,P=0.182);RA조/건강조PADI4-104등위기인A、G급기A/A、G/G화A/G기인형빈솔분별시0.412/0.345、0.588/0.655,0.150/0.144、0.32710.454화0.522/0.402,2조차이무통계학의의(X2=1.937,P=0.164;X2=3.780,P=0.151).③RA조PADI4-94/PADI4-104각기인형간홍세포침강솔(ESR),RA질병활동관절평분28(DAS28)평분,C반응단백(CRP),항배과안산태(CCP)항체,PADI4단백량급항PADI4항체수평차이무통계학의의(P치분별위0.46/0.67,0.62/0.57,0.12/0.23,0.81/0.43,0.78/0.75,0.38/0.31).결론 아국인군PADI4-94화PADI4-104량위점존재다태성,단기여RA적역감성무관.
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.