Genetic and nongenetic factors are involved in the pathogenesis of immune-mediated inflammatory diseases (IMIDs). The best-known genetic factor for susceptibility to IMIDs is the human leukocyte antigen (HLA). The aim of the present study was to evaluate the association of HLA class II genes with the risk of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc) in the Paraguayan population. We included 254 patients with IMIDs (101 SLE, 103 RA, and 50 SSc) and 50 healthy controls. The haplotypes of five genes corresponding to HLA class II genes and their relationship to the IMIDs studied were determined. Note that 84.6% were women, with a mean age of 43.4 ± 14 years. Among the associated HLA alleles, we found the previously identified risk factors in other populations like HLA-DRB1*03:01 and HLA-DRB1*14:02 for RA, as well as new ones not previously identified, such as DPA1*02:01 for SLE and, DB1*02:01 for RA and SSc. In the genetic association analysis, already known associations have been replicated, and unpublished associations have been identified in Paraguayan patients with IMIDs. This is the first genetic association study in Paraguayan patients with IMIDs.

中文翻译：

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II 类 HLA 等位基因与巴拉圭患者发生免疫介导疾病的易感性的关联

遗传和非遗传因素参与免疫介导的炎症性疾病 (IMID) 的发病机制。最广为人知的 IMID 易感性遗传因素是人类白细胞抗原 (HLA)。本研究的目的是评估 HLA II 类基因与巴拉圭人群中系统性红斑狼疮 (SLE)、类风湿性关节炎 (RA) 和系统性硬化症 (SSc) 风险的关联。我们纳入了 254 名 IMID 患者（101 名 SLE、103 名 RA 和 50 名 SSc）和 50 名健康对照者。确定了对应于 HLA II 类基因的五个基因的单倍型及其与研究的 IMID 的关系。请注意，84.6% 是女性，平均年龄为 43.4 ± 14 岁。在相关的 HLA 等位基因中，我们发现了之前在其他人群中发现的风险因素，如 HLA-DRB1*03:01 和 HLA-DRB1*14：02 用于 RA，以及以前未识别的新的，例如用于 SLE 的 DPA1*02:01 和用于 RA 和 SSc 的 DB1*02:01。在遗传关联分析中，已经复制了已知的关联，并且在患有 IMID 的巴拉圭患者中发现了未发表的关联。这是巴拉圭 IMID 患者的第一项遗传关联研究。