Srivastava R, Agnihotry S, Aggarwal R, Bajpai P, Aggarwal A
Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, and Department of Biosciences, Integral University, Lucknow, India.
Biomedical Informatic Centre, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Clin Exp Rheumatol. 2015 Nov-Dec;33(6):931-5. Epub 2015 Aug 27.
Enthesitis-related arthritis (ERA) is the most common form of juvenile idiopathic arthritis (JIA) in the Asian and Indian populations. The presence of HLA-B27 has a strong association with JIA-ERA similar to that with adult ankylosing spondylitis (AS). The HLA-B27gene is highly polymorphic. Susceptibility to AS varies between different HLA-B27 subtypes; data on the relationship of susceptibility to JIA-ERA with HLA-B27 types are scant. In this study, we determined HLA-B27 subtypes in patients with JIA-ERA and AS to find out whether there is any difference in the HLA-B27 subtypes prevalent in these two diseases.
Genomic DNA from 135 patients with JIA-ERA and 121 with AS was tested for the presence of HLA-B27. In patients testing positive, HLA-B27subtyping was done by sequencing a genomic region that contained second and third exons and the intervening intron of this gene; this method permitted identification of common HLA-B27 subtypes (HLA-B27:01 to HLA-B27:09).
One hundred and seven (79%) patients with JIA-ERA and 102 (84%) patients with AS tested positive for HLA-B27. In both groups, HLA-B27:05 and HLA-B27:04 were the common subtypes; some patients had HLA-B27:07(7.4%) and HLA-B27:18. Patients with JIA-ERA had a higher frequency of HLA-B27:05 than those with AS (70% vs. 57%, p=0.047), and a lower frequency of HLA-B27:04 (21% vs. 36%, p=0.018).
HLA-B27:05 and HLA-B27:04 were the most common HLA-27 subtypes in both JIA-ERA and AS. However, HLA-B27:05 was more frequent and HLA-B27:04 was less frequent in JIA-ERA. It is possible that HLA-B*27:05 being the ancestral HLA-27 subtype leads to expression of disease early in life.
附着点炎相关关节炎(ERA)是亚洲和印度人群中幼年特发性关节炎(JIA)最常见的形式。HLA - B27的存在与JIA - ERA密切相关,类似于其与成人强直性脊柱炎(AS)的关系。HLA - B27基因具有高度多态性。AS的易感性在不同的HLA - B27亚型之间存在差异;关于JIA - ERA易感性与HLA - B27类型之间关系的数据很少。在本研究中,我们测定了JIA - ERA患者和AS患者的HLA - B27亚型,以找出这两种疾病中流行的HLA - B27亚型是否存在差异。
对135例JIA - ERA患者和121例AS患者的基因组DNA进行HLA - B27检测。在检测呈阳性的患者中,通过对包含该基因第二和第三外显子以及中间内含子的基因组区域进行测序来进行HLA - B27亚型分型;该方法可鉴定常见的HLA - B27亚型(HLA - B27:01至HLA - B27:09)。
107例(79%)JIA - ERA患者和102例(84%)AS患者HLA - B27检测呈阳性。在两组中,HLA - B27:05和HLA - B27:04是常见亚型;一些患者有HLA - B27:07(7.4%)和HLA - B27:18。JIA - ERA患者中HLA - B27:05的频率高于AS患者(70%对57%,p = 0.047),而HLA - B27:04的频率低于AS患者(21%对36%,p = 0.018)。
HLA - B27:05和HLA - B27:04是JIA - ERA和AS中最常见的HLA - 27亚型。然而,HLA - B27:05在JIA - ERA中更常见,HLA - B27:04在JIA - ERA中较少见。有可能HLA - B*27:05作为HLA - 27的祖先亚型导致疾病在生命早期表达。