Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients
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作者：
Paradowska-Gorycka, A.;Stypinska, B.;Jurkowska, M.
混合性结缔组织病（MCTD）是一种全身性自身免疫性疾病，最初定义为结缔组织炎性综合征，具有系统性红斑狼疮（SLE）、类风湿性关节炎（RA）、多发性肌炎/皮肌炎（PM/DM）和系统性硬化症（SSc）的重叠特征，其特征是存在针对U1小核核糖核蛋白（U1 snRNP）组分的抗体。该研究的目的是评估波兰MCTD患者（n = 103）队列中（高分辨率分型）DRB 1等位基因的频率。通过与DKMS波兰骨髓供体登记处（41306个等位基因）进行比较，鉴定可能与风险和保护相关的变异。DRB 1 *15：01（比值比（OR）：6.06; DRB 1 *04（OR：3.69; 95%CI 2.69-5.01）和 *09：01（OR：8.12; 95%CI 2.15-21.75）被确定为MCTD的危险等位基因，而HLA-DRB 1 *07：01等位基因被发现为保护性等位基因（OR：0.50; 95%CI 0.28-0.83）。与对照组相比，MCTD患者的DRB 1 *01携带频率较高，但差异无统计学意义。我们的研究结果证实了HLA-DRB 1基因型对结缔组织疾病如MCTD的发展的调节作用。
Mixed connective tissue disease (MCTD) is a systemic autoimmune disease, originally defined as a connective tissue inflammatory syndrome with overlapping features of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), polymyositis/dermatomyositis (PM/DM) and systemic sclerosis (SSc), characterized by the presence of antibodies against components of the U1 small nuclear ribonucleoprotein (U1snRNP). The aim of the study was to assess the frequency of (high-resolution-typed) DRB1 alleles in a cohort of Polish patients with MCTD (n = 103). Identification of the variants potentially associated with risk and protection was carried out by comparison with the DKMS Polish Bone Marrow Donor Registry (41306 alleles). DRB1*15:01 (odds ratio (OR): 6.06; 95% confidence interval (CI) 4.55-8.06), DRB1*04 (OR: 3.69;95% CI 2.69-5.01) and *09:01 (OR: 8.12; 95% CI 2.15-21.75) were identified as risk alleles for MCTD, while HLA-DRB1*07:01 allele was found to be protective (OR: 0.50; 95% CI 0.28-0.83). The carrier frequency of the DRB1*01 was higher in MCTD patients compared with controls, although the differences were not statistically significant. Our results confirm the modulating influence of HLA-DRB1 genotypes on development of connective tissue diseases such as MCTD.