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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。
Objective To investigate the relationship between the polymorphism of peptidylarginine deiminase (PADI) gene and the susceptibility and pathogenesis of rheumatoid arthritis (RA). Methods PADI4-94 and 104 single nucleotide polymorphisms (SNPs) were detected in 130 RA patients and 130 healthy controls by direct sequencing. The anti-cyclic citrullinated peptide Antibody (cyclic citrullinated peptide, CCP) and other indicators were detected. Results The genotypes CC, CT and TT were detected in PADI4-94 and 104 in both RA and healthy controls. The frequencies of PADI4-94 genotypes (CC: 26.1%, CT: 50.8%, TT: 23.1 %) Was significantly higher than that of the healthy control group (CC: 40.8%, CT: 41.5%, TT: 17.7%) (χ2 = 6.274, P = 0.043) (48.5%) compared with the healthy control group (38.5%), the difference was statistically significant (P = 0.021). The frequencies of PADI4-104 genotypes (CC: 33.1%, CT: 48.5%, TT: 18.5%) in RA group were not statistically different from those in healthy controls (CC: 43.8%, CT: 43.1%, TT: 13.1%) (Χ2 = 3.567, P = 0.168). There was no significant difference in the frequency of the rare allele T allele PADI4-104 (42.7%) between the RA group and the healthy control group (34.6%) (P = 0.059). The frequency of rare gene T carriers (TT and CT) in both groups showed that the frequency of rare T carriers in PADI 4-94 and 104 genes was significantly higher in RA patients than in healthy controls (P values 0.013 and 0.041, respectively). Gender-disaggregated genotyping of PADI 4-94 and 104 was not found by sex. Conclusions The PADI4-94 gene in Han population is associated with the susceptibility to RA. The risk of RA in PADI4-94 and PADI4-104 rare carriers is high, and the role of PADI4 in RA development deserves further study.