AR：自身抗体出现频率与个人携带的自身免疫风险表位数量有关

类风湿关节炎（RA）患者的非RA自身抗体的重要性还不清楚。针对这一情况，来自美国波士顿布里格姆和妇女医院的Katherine P. Liao等人进行了一项研究，该研究的目的是分析电子病历（EMRs）中RA患者和非RA患者的临床诊断和自身抗体、自身抗原风险表位的关系。研究结果在线发布在2013年3月的《关节炎与风湿病》（ARTHRITIS & RHEUMATISM）杂志上，作者发现，RA患者和非RA对照中自身抗体的频率升高与个人携带的自身免疫风险表位数量有关。依据EMR数据和血液学标本获得的实验室数据的PheWAS为疾病生物学标志的临床意义的检测提供了一个新颖的方法。

2大学术中心的电子病历（EMRs）共包括欧洲血统的1,290位RA患者和1,236位非RA对照。记录受试者的抗瓜氨酸蛋白抗体（APCAs）、抗核抗体（ANA），抗组织转谷氨酰胺酶抗体（AGTAs），抗甲状腺过氧化物酶（anti-TPO）的水平。所有的受试者均按自身免疫风险等位基因分型。研究者对自身免疫性风险表位的数目和自身抗体的关系进行研究。研究者采用该全现象相关研究（PheWAS）来分析RA患者和非RA对照自身抗体和临床诊断的潜在关系。

研究结果如下，RA患者组平均年龄为60.7岁，非RA对照组平均年龄为64.6岁。两组中女性患者所占比例为79%。RA患者组ACPAs和ANAs的概率高于非RA对照组（P均< 0.0001），anti-TPO和AGTAs抗体在两组中无显著差异。大量自身免疫风险表位与R A患者（P=2.1 *10-5）和非RA对照（P=5.0*10-3）出现多种自身免疫抗体有关。从PheWAS可见，ANAs的出现与RA患者中干燥综合征的诊断有显著关系。

研究发现，RA患者和非RA对照中自身抗体的频率升高与个人携带的自身免疫风险表位数量有关。依据EMR数据和血液学标本获得的实验室数据的PheWAS为疾病生物学标志的临床意义的检测提供了一个新颖的方法。

与类风湿关节炎相关的拓展阅读：

• ARD：紫外线暴露可减少女性罹患类风湿关节炎风险
• Ann Rheum Dis：日光浴或预防类风湿关节炎
• Rheumatology：类风湿关节炎患者整体肿瘤罹患风险高
• Lancet：依那西普维持治疗可控制类风湿关节炎疾病活动
• Arthritis Rheum：类风湿关节炎患者 THA后易脱臼，TKA后易感染
• FDA批准第一个治疗类风湿关节炎口服生物制剂Xeljanz
更多信息请点击：有关类风湿关节炎更多资讯

Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls.
OBJECTIVE
The significance of non-rheumatoid arthritis (RA) autoantibodies in patients with RA is unclear. The aim of this study was to assess associations of autoantibodies with autoimmune risk alleles and with clinical diagnoses from the electronic medical records (EMRs) among RA cases and non-RA controls.
METHODS
Data on 1,290 RA cases and 1,236 non-RA controls of European genetic ancestry were obtained from the EMRs of 2 large academic centers. The levels of anti-citrullinated protein antibodies (ACPAs), antinuclear antibodies (ANAs), anti-tissue transglutaminase antibodies (AGTAs), and anti-thyroid peroxidase (anti-TPO) antibodies were measured. All subjects were genotyped for autoimmune risk alleles, and the association between number of autoimmune risk alleles present and number of types of autoantibodies present was studied. A phenome-wide association study (PheWAS) was conducted to study potential associations between autoantibodies and clinical diagnoses among RA cases and non-RA controls.
RESULTS
The mean ages were 60.7 years in RA cases and 64.6 years in non-RA controls. The proportion of female subjects was 79% in each group. The prevalence of ACPAs and ANAs was higher in RA cases compared to controls (each P < 0.0001); there were no differences in the prevalence of anti-TPO antibodies and AGTAs. Carriage of higher numbers of autoimmune risk alleles was associated with increasing numbers of autoantibody types in RA cases (P = 2.1 × 10(-5)) and non-RA controls (P = 5.0 × 10(-3)). From the PheWAS, the presence of ANAs was significantly associated with a diagnosis of Sjögren's/sicca syndrome in RA cases.
CONCLUSION
The increased frequency of autoantibodies in RA cases and non-RA controls was associated with the number of autoimmune risk alleles carried by an individual. PheWAS of EMR data, with linkage to laboratory data obtained from blood samples, provide a novel method to test for the clinical significance of biomarkers in disease.