论文部分内容阅读
目的探讨肿瘤坏死因子受体1(tumor necrosis factor receptor1,TNFR1)脱落调节氨肽酶1(aminopeptidase regulator of TNFR1shedding1,ARTS1)基因多态性与广东汉族人群类风湿关节炎(rheumatoid arthritis,RA)遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)的方法检测广东汉族人群RA患者(RA组)和健康志愿者(对照组)ARTS1基因6个单核苷酸多态性(single nucleotide polymorphism,SNP)位点的等位基因以及基因型频率,分析6个多态性位点与RA遗传易感性的关系。采用多重线性回归分析6个SNP与RA的临床指标(包括年龄、性别、发病年龄、肿胀关节数目、压痛关节数目、红细胞沉降率、C反应蛋白、晨僵时间、类风湿因子和抗环瓜氨酸肽抗体)的相关性。结果 110例RA患者中,携带ARTS1rs26653GG基因型频率(26%)和G等位基因频率(52%)显著高于正常对照组(319例)GG基因型频率(18%)和G等位基因频率(48%),差异有统计学意义(P<0.05,OR=2.332,95%CI1.244～4.371)。ARTS1rs26618、rs27434、rs27640、rs27529、rs270445个位点基因型以及等位基因频率与对照组比较差异无统计学意义(P>0.05)。使用多重线性回归分析,6个SNP位点中rs26653与RA患者肿胀关节数目呈显著正相关(r=0.477,P<0.05),其余5个SNP与肿胀关节数目无显著相关性。6个SNP位点与其余临床指标(年龄、性别、发病年龄、压痛关节数目、红细胞沉降率、C反应蛋白、晨僵时间、类风湿因子和抗环瓜氨酸肽抗体)无显著相关性。结论广东地区汉族人群中,与ARTS1rs26653CC基因型相比,携带rs26653GG基因型可增加RA的发病风险。
Objective To investigate the genetic polymorphisms of tumor necrosis factor receptor 1 (TNFR1) and aminopeptidase regulator of TNFR1 shedding1 (ARTS1) in Chinese Han population with rheumatoid arthritis (RA) Sensual relationship. Methods The ARTS1 gene of RA patients (RA group) and healthy volunteers (control group) of Guangdong Han population were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) 6 single nucleotide polymorphisms (single nucleotide polymorphism, SNP) loci alleles and genotype frequency analysis of six polymorphic loci and genetic susceptibility to RA. Multiple linear regression was used to analyze the clinical data of six SNPs and RA (including age, gender, age of onset, number of swollen joints, number of tender joints, erythrocyte sedimentation rate, C-reactive protein, morning stiffness, rheumatoid factor, Acid peptide antibodies). Results The frequency of genotypes of ARTS1rs26653GG (26%) and G allele (52%) were significantly higher in 110 patients with RA than those in normal controls (319 cases), GG genotype frequency (18%) and G allele frequency (48%), the difference was statistically significant (P <0.05, OR = 2.332, 95% CI1.244 ~ 4.371). The genotype and allele frequencies of ARTS1 rs26618, rs27434, rs27640, rs27529 and rs270445 loci were not significantly different from the control group (P> 0.05). Using multiple linear regression analysis, there was a significant positive correlation between rs26653 and the number of swollen joints in RA patients (r = 0.477, P <0.05). There was no significant correlation between the other five SNPs and the number of swollen joints. There were no significant correlations between the six SNPs and other clinical parameters (age, sex, age at onset, number of tender joints, erythrocyte sedimentation rate, C-reactive protein, morning stiffness time, rheumatoid factor and anti-cyclic citrullinated peptide antibody). Conclusion Compared with the ARTS1 rs26653CC genotype, the rs26653GG genotype may increase the risk of RA in Guangdong Han population.