【摘要】 目的研究肽酰精氨酸脱亚胺基酶(peptidylarginine deiminase,PADI)基因多态性与类风湿关节炎(rheumatoid arthritis,RA)易感性和发病机制的关系。方法采用直接测序法检测了130例RA患者和性别、年龄匹配的130名健康体检者的PADI4-94和104单核苷酸多态性(SNP),同时对RA患者的抗环瓜氨酸肽抗体(cyclic citrullinated peptide,CCP)等指标进行检测。结果 RA组与健康对照组的PADI4-94和104基因均检测到CC、CT和TT三种基因型,RA组PADI4-94各基因型频率(CC:26.1%,CT:50.8%,TT:23.1%)与健康对照组(CC:40.8%,CT:41.5%,TT:17.7%)比较,差异有统计学意义(χ2=6.274,P=0.043);RA组PADI4-94少见等位基因T频率(48.5%)与健康对照组(38.5%)比较,差异有统计学意义(P=0.021)。RA组PADI4-104各基因型频率(CC:33.1%,CT:48.5%,TT:18.5%)与健康对照组(CC:43.8%,CT:43.1%,TT:13.1%)比较,差异无统计学意义(χ2=3.567,P=0.168);RA组PADI4-104少见等位基因T频率(42.7%)与健康对照组(34.6%)比较差异无统计学意义(P=0.059)。就少见基因T携带者(TT和CT)频率在两组中的统计显示,RA患者PADI4-94和104基因中少见基因T携带频率显著高于健康对照组(P值分别为0.013和0.041)。按性别分组分析未发现PADI4-94和104基因型分布有性别差异。结论汉族人群PADI4-94基因与RA易感性相关,PADI4-94和PADI4-104少见基因携带者的RA患病风险较高,PADI4基因在RA发生发展中的作用机制值得进一步深入研究。更多还原

【Abstract】 Objective To evaluate the relationship of the peptidylarginine deiminase 4(PADI4) gene polymorphism with rheumatoid arthritis(RA) in Han population from Henan.Methods The PADI4-94 and 104 single nucleotide polymorphisms(SNPs) in 130 RA patients and gender-and age-matched 130 healthy individuals were analyzed to study the influence of PADI4 variability on RA susceptibility by means of haplotype-specific DNA sequencing.Rheumatoid factor(RF),anti-cyclic citrullinated peptide(CCP) antibody and other relative data were also collected.Results The genotype frequencies of PADI4-94 SNP were different between RA group(CC:26.1%,CT:50.8%,TT:23.1%) and the control(CC:40.8%,CT:41.5%,TT:17.7%)(χ2=6.274,P=0.043) and the rare allele T frequencies of PAD I4-94 were also different between two groups(48.5% vs.38.5%)(P=0.021),but all these differences were not significant between two groups on genotype and rare allele frequencies of PAD I4-104.The carrier’s proportion of rare gene TT & CT in PAD I4-94(TT:23.1%,CT:50.8%) and 104(TT:18.5%,CT:48.5%)was higher in RA group than in the control(P=0.013 and 0.041).In RA group,no association was found between positive rates & levels of anti-CCP and the genotype frequencies of PAD I4-94 and 104.Conclusion The study results show that variability of the PADI4 gene may influence susceptibility to RA in HAN population.更多还原