Saghafi Massoud, Nohesara Najmeh, Rafatpanah Houshang, Shariati Jaleh, Shakeri Mohamad Taghi
Rheumatic Diseases Research Center, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Clin Rheumatol. 2014;33(10):1397-402. doi: 10.1007/s10067-014-2628-9. Epub 2014 Apr 24.
Rheumatoid arthritis (RA) is a chronic inflammatory disease of the joints that has a strong correlation with HLA-DRB1. Family history is considered a known risk factor for RA. The aims of this study were to compare the frequency of HLA-DRB1 alleles between patients with sporadic and familial RA and also between healthy controls with RA patients (sporadic and familial) and clarify if familial RA is more severe than sporadic RA. This study included 129 consecutive patients with sporadic and 48 cases with familial (first-degree siblings) RA who visited a rheumatology unit. Demographic data, including extra-articular involvement, mean disease activity according to DAS28 (ESR) criteria, and main laboratory findings, were compared between patients with sporadic and familial RA. HLA-DRB1 typing was carried out using the PCR-SSP method, and the frequency of each allele was determined in all cases and compared with the results of HLA-DRB1 frequencies in 72 healthy controls who were previously reported by our group in northeast Iran. Patients with sporadic and familial RA were matched in age and sex, most of the cases in both groups were females. The mean age of patients was 45 years. Ocular involvement was the most frequent extra-articular manifestation of our patients. There was no significant difference between the two groups in visual analogue scale (VAS) index, number of inflamed or tender joints, extra-articular involvements, and main laboratory findings. HLA-DRB1* 01 (55 %), 04 (48 %), and 03 (43 %) alleles were the most frequent alleles in both sporadic and familial diseases. The frequency of HLA-DRB111 and HLA-DRB113 was significantly higher in normal participants compared with RA (p = 0.001). There was no significant difference in the HLA-DRB1 allele's frequency between sporadic and familial RA. Therefore, familial aggregation was not associated with RA severity.
类风湿关节炎（RA）是一种关节慢性炎症性疾病，与HLA - DRB1密切相关。家族史被认为是RA的已知危险因素。本研究的目的是比较散发性和家族性RA患者之间HLA - DRB1等位基因的频率，以及健康对照与RA患者（散发性和家族性）之间HLA - DRB1等位基因的频率，并阐明家族性RA是否比散发性RA更严重。本研究纳入了129例连续就诊于风湿病科的散发性RA患者和48例家族性（一级亲属）RA患者。比较了散发性和家族性RA患者的人口统计学数据，包括关节外受累情况、根据DAS28（ESR）标准的平均疾病活动度以及主要实验室检查结果。采用PCR - SSP方法进行HLA - DRB1分型，确定所有病例中各等位基因的频率，并与我们团队之前在伊朗东北部报道的72名健康对照的HLA - DRB1频率结果进行比较。散发性和家族性RA患者在年龄和性别上相匹配，两组中的大多数病例为女性。患者的平均年龄为45岁。眼部受累是我们患者最常见的关节外表现。两组在视觉模拟量表（VAS）指数、炎症或压痛关节数量、关节外受累情况以及主要实验室检查结果方面无显著差异。HLA - DRB101（55%）、04（48%）和03（43%）等位基因是散发性和家族性疾病中最常见的等位基因。与RA患者相比，正常参与者中HLA - DRB111和HLA - DRB1*13的频率显著更高（p = 0.001）。散发性和家族性RA之间HLA - DRB1等位基因频率无显著差异。因此，家族聚集性与RA严重程度无关。
