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HLA-DRB1, IRF5 , and CD28 gene polymorphisms in Egyptian patients with rheumatoid arthritis: susceptibility and disease activity
Genes and Immunity ( IF 5 ) Pub Date : 2021-05-20 , DOI: 10.1038/s41435-021-00134-8
Nora M Said 1 , Nillie Ezzeldin 2 , Dina Said 2 , Amany M Ebaid 2 , Dina M Atef 1 , Rehab M Atef 1
Affiliation  

This study was established to assess the effects of IRF5 rs10488631 and CD28 rs1980422 single-nucleotide polymorphisms (SNPs) and HLA-DRB1 shared epitope (SE) allele on the prognosis and disease activity of rheumatoid arthritis (RA) patients. A total of 150 RA patients and 150 healthy controls were genotyped for the selected SNPs by real-time PCR. HLA-DRB1 SE was determined using LAB Type SSO Class II DRB1 typing. Our results suggest that HLA-DRB1, CD28, and IRF5 significantly discriminated (p < 0.001) RA patients and healthy controls (OR of single HLA-DRB1 SE allele = 2.431, CI = 1.467–4.027, OR of two SE alleles = 11.152, CI = 2.479–50.159), (OR of CD28 risk allele C = 2.794, 95% CI = 1.973–3.956) and (OR of IRF5 risk allele C = 4.925, CI = 3.26–7.439). Rheumatoid factor (RF) seropositivity was associated with HLA-DRB1 SE (p < 0.001) and IRF5 risk allele (p < 0.001). ACPA was significantly associated only with IRF5 risk allele (p < 0.001). A better response to methotrexate therapy was found in HLA-DRB1 SE non-carriers, and CD28 TT patients. This study demonstrated associations of HLA-DRB1 SE, CD28, and IRF5 with the risk of RA. HLA-DRB1 SE and CD28 rs1980422 can be used as predictors of methotrexate therapy response.



中文翻译:

埃及类风湿关节炎患者的 HLA-DRB1、IRF5 和 CD28 基因多态性:易感性和疾病活动度

本研究旨在评估IRF5 rs10488631CD28 rs1980422单核苷酸多态性 (SNP) 和HLA-DRB1共享表位 (SE) 等位基因对类风湿关节炎 (RA) 患者预后和疾病活动的影响。通过实时 PCR 对总共 150 名 RA 患者和 150 名健康对照进行了选定 SNP 的基因分型。HLA-DRB1 SE 是使用 LAB Type SSO Class II DRB1 分型确定的。我们的结果表明HLA-DRB1CD28IRF5显着区分(p < 0.001) RA 患者和健康对照(单个 HLA-DRB1 SE 等位基因的 OR = 2.431,CI = 1.467–4.027,两个 SE 等位基因的 OR = 11.152,CI = 2.479–50.159),(CD28风险等位基因 C的 OR = 2.794 , 95% CI = 1.973–3.956) 和 ( IRF5风险等位基因 C 的 OR = 4.925, CI = 3.26–7.439)。类风湿因子 (RF) 血清阳性与HLA-DRB1 SE ( p  < 0.001) 和IRF5风险等位基因 ( p  < 0.001) 相关。ACPA 仅与IRF5风险等位基因显着相关( p  < 0.001)。在HLA-DRB1 SE 非携带者和CD28中发现对甲氨蝶呤治疗有更好的反应TT患者。这项研究证明了HLA-DRB1 SE、CD28IRF5与 RA 风险的关联。HLA-DRB1 SE和 CD28 rs1980422可用作甲氨蝶呤治疗反应的预测因子。

更新日期:2021-05-20
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