Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, Sagamihara, Japan.
Mod Rheumatol. 2020 Jul;30(4):696-702. doi: 10.1080/14397595.2019.1637593. Epub 2019 Jul 18.
The human leukocyte antigen (HLA) is the strongest genetic risk factor for idiopathic inflammatory myopathy (IIM), and different alleles have been reported to be associated with IIM susceptibility among different ethnic groups. In this study, we have investigated HLA alleles associated with IIM in Japanese patients. Genotyping of and were performed in 252 Japanese IIM patients (166 dermatomyositis [DM] and 86 polymyositis [PM] patients) and the association was analyzed with comparison to controls ( = 1026 for and = 413 for ). was associated with IIM ( = 1.60 × 10, c = .0005, odds ratio [OR] 2.11, 95% confidence interval [CI] 1.52-2.92) and DM ( = .0004, c = .0128, OR 2.06, 95%CI 1.40-3.02). was also associated with IIM ( = .0001, c = .0021, OR 1.96, 95%CI 1.38-2.77) and DM ( = .0005, c = .0075, OR 2.05, 95%CI 1.37-3.08). ( = .0012, c = .0368, OR 0.35, 95% CI 0.18-0.69) and ( = .0004, c = .0057, OR 0.05, 95% CI 0.00-0.85) were protectively associated with PM. Two locus analyses suggested that and were independently associated with PM. Protective associations of were detected in Japanese PM patients.
人类白细胞抗原（HLA）是特发性炎性肌病（IIM）最强的遗传风险因素，不同的等位基因已被报道与不同种族的 IIM 易感性相关。在这项研究中，我们研究了与日本患者的 IIM 相关的 HLA 等位基因。在 252 名日本 IIM 患者（166 名皮肌炎[DM]和 86 名多发性肌炎[PM]患者）中进行了和的基因分型，并与对照组（ = 1026 名用于 ， = 413 名用于 ）进行了比较。与 IIM（ = 1.60×10，c = .0005，优势比[OR]2.11，95%置信区间[CI]1.52-2.92）和 DM（ = .0004，c = .0128，OR 2.06，95%CI 1.40-3.02）相关。与 IIM（ = .0001，c = .0021，OR 1.96，95%CI 1.38-2.77）和 DM（ = .0005，c = .0075，OR 2.05，95%CI 1.37-3.08）也相关。与 PM（ = .0012，c = .0368，OR 0.35，95%CI 0.18-0.69）和（ = .0004，c = .0057，OR 0.05，95%CI 0.00-0.85）呈保护性相关。两位点分析表明和独立与 PM 相关。在日本 PM 患者中检测到对的保护性关联。
