摘要:Objective To invesligale the association of aminopeplidase regulator of TNFR1 shedding 1 (ARTS1 ) gene polymorphism with the genelic susceptibility to rheumatoid arthritis ( RA) in Guangdong Han population. Methods The allele gene frequency and genotypic frequency at single nucleotide polymorphism ( SNP) situs of ARTS1 in RA patients ( RA group) and healthy controls ( control group) of Han population in Guangdong province, China were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphisms (RFLP) techniques, and analysis the association of the polymorphisms at six SNPs situs with the genetic susceptibility to RA. Multiple linear regression analysis was performed to test whether the 6 SNPs were correlated with the clinical features, age, sex, onset site, swollen joint counts ( SJC ) , tender joint counts ( TJC ) , erythrocyte sedimentation rate (ESR) ,C-reactive protein (CRP) ,morning stiffness time,rheumatoid factor (RF) and anti-cyclic citrullinated peptides (CCP) antibody. Results The frequencies of GG genotype and G allele of ARTS1 rs26653 locus were 26% and 52% respectively in RA group which were higher than those in control group, the difference had statistic significance ( r = 0. 477 ,P < 0. 05). There was no significant difference in the distribution of genotype for the ARTS1 rs26618 , rs27434, rs27640, rs27529, rs27044 locus between the RA group and the control group ( P > 0. 05). Multiple linear regression analysis showed that the SNP rs26653 was found to be significantly correlated with the SJC in RA patients ( r = 0. 477 , P < 0. 05). There was no significant correlation between the other 5 SNPs and the clinical features (age,sex,onset site,SJC,TJC ,ESR,CRP,morning stiffness time,RF and anti-CCP anlibody). Conclusions The G allele of ARTS1 rs26653 locus is possibly associated with the genetic susceptibitity Lo RA in Guangdong Han population.%目的 探讨肿瘤坏死因子受体1(tumor necrosis factor receptor 1,TNFR1)脱落调节氨肽酶1(aminopeptidase regulator of TNFR1 shedding 1,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ARTS1 rs26653 GG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% CI 1.244~4.371).ARTS1 rs26618、rs27434、rs27640、rs27529、rs27044 5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ARTS1 rs26653 CC基因型相比,携带rs26653 GG基因型可增加RA的发病风险.