首页> 外文期刊>The Egyptian Rheumatologist >Association of interleukin-23 receptor (IL-23R) gene polymorphisms (rs11209026, rs2201841 and rs10889677) with Egyptian rheumatoid arthritis patients
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Association of interleukin-23 receptor (IL-23R) gene polymorphisms (rs11209026, rs2201841 and rs10889677) with Egyptian rheumatoid arthritis patients

机译:白介素23受体(IL-23R)基因多态性(rs11209026,rs2201841和rs10889677)与埃及类风湿关节炎患者的关联

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Aim of the work To analyse interleukin 23 receptors (IL23R) single-nucleotide polymorphism (SNPs) (rs11209026, rs2201841, and rs10889677) and to detect their association with Egyptian rheumatoid arthritis (RA) patients. Patients and methods The study included 120 Egyptian RA patients and 120 healthy controls that were genotyped for the three SNPs by real time/polymerase chain reaction for the first SNP and restriction fragment length polymorphism/PCR (RFLP/PCR) in the last two SNPs. The disease activity score (DAS28) was assessed in the patients. Results The studied patients had a mean age of 42.5 ± 13.4 years, a disease duration of 5.2 ± 3.5 years and consisted of 22 males and 98 females. Joint deformities were present in 35 and 66 patients had swollen joints. The rheumatoid factor (RF) was positive in 78.3% and the DAS28 was 3.2 ± 1.2. Our data emphasize that the AA genotype of rs11209026 was significantly associated with RA patients compared to the controls ( p = 0.001). We did not find any significant association between either rs2201841 or rs10889677 and the development of RA ( p = 1, p = 0.56 respectively). The AA allele in the 3 SNPs were remarkable frequent in those with deformities and positive RF. Conclusion Our results suggest that IL23 receptor AA genotype variant of rs11209026 contributes to the aetiology of RA and may be considered a genetic marker and shared the susceptibility gene. We need to address the subgroup of patients who will benefit from the selective suppression of the IL-23 signalling which would represent new perspectives towards a personalized therapy of RA patients by further studies.
机译:工作的目的分析白介素23受体(IL23R)单核苷酸多态性(SNP)(rs11209026,rs2201841和rs10889677),并检测它们与埃及类风湿关节炎(RA)患者的关联。患者和方法该研究包括120位埃及RA患者和120位健康对照,通过实时/聚合酶链反应对第一个SNP进行基因分型,并对最后两个SNP的限制性片段长度多态性/ PCR(RFLP / PCR)进行了基因分型。在患者中评估疾病活动评分(DAS28)。结果研究的患者平均年龄为42.5±13.4岁,病程为5.2±3.5岁,由22名男性和98名女性组成。 35例和66例关节肿胀的患者存在关节畸形。类风湿因子(RF)阳性为78.3%,DAS28为3.2±1.2。我们的数据强调,与对照组相比,rs11209026的AA基因型与RA患者显着相关(p = 0.001)。我们未发现rs2201841或rs10889677与RA的发展之间存在任何显着关联(分别为p = 1,p = 0.56)。 3个SNP中的AA等位基因在畸形和RF阳性者中非常常见。结论我们的结果表明rs11209026的IL23受体AA基因型变异有助于RA的病因,可能被认为是遗传标记并共享易感基因。我们需要解决将受益于IL-23信号选择性抑制的患者亚组,这将通过进一步的研究为RA患者的个性化治疗提供新的观点。

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