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IRAK1 Gene Polymorphism in Rheumatoid Arthritis.
Immunological Investigations ( IF 2.8 ) Pub Date : 2020-06-08 , DOI: 10.1080/08820139.2020.1764028
Najme Hosseini 1, 2 , Mohammad Taher Tahoori 1, 2 , Adel Mohammadzadeh 3 , Hossein Zarei Jaliani 4 , Morteza Bitaraf Sani 5 , Hosein Soleimani Salehabadi 6
Affiliation  

ABSTRACT

Background: Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease. The present study intends to specify rs1059703, rs4810485, and rs1883832 gene polymorphisms of interleukin-1 receptor-associated kinase (IRAK1) and cluster of differentiation 40 (CD40) in RA. IRAK1 is a serine/threonine kinase and CD40 is a tumor necrosis factor receptor, both of which are involved in RA. There are conflicting results on functional effects of these polymorphisms, so we performed this research for a more accurate estimation on rheumatoid arthritis risk.

Methods: Two-hundred RA patients diagnosed according to ACR criteria and 200 normal controls participated in this case-control study. DNA Purification kit (Gene Transfer Pioneers, GTP) was used for genomic DNA extraction and three SNPs, including IRAK1 rs1059703 (C/T), CD40 rs1883832 (C/T) and rs4810485 (G/T), were genotyped by PCR-RFLP. The genotypes and allele frequencies of SNPs were analyzed by chi-square test to detect their contribution to RA.

Results: A significant correlation was found between rs1059703 T allele (OR = 2.36, 95% CI = 1.7–3.1, p = .0001) and TT and CT genotypes (TT genotype, OR = 2.54, 95%CI = 1.2–3.3, P = .0078, CT genotype; OR = 2.18 95%CI = 1.4–3.2P = .0002) of rs1059703 C/T polymorphism in terms of susceptibility to RA in recessive and over-dominant models. Alleles and genotypes of CD40 SNPs were not significantly different between RA cases and controls. The findings showed significant differences in rs1059703 IRAK1 genotypes with medical and laboratory features of patients.

Conclusion: Our results showed that the rs1059703 T allele (risk allele) of IRAK1 gene increases the risk of RA and the severity of disease, affecting the onset age of RA in Iranian patients.



中文翻译:

类风湿性关节炎中的 IRAK1 基因多态性。

摘要

背景:类风湿性关节炎(RA)是一种慢性炎症性自身免疫性疾病。本研究旨在确定 RA 中白细胞介素 1 受体相关激酶 (IRAK1) 和分化簇 40 (CD40) 的 rs1059703、rs4810485 和 rs1883832 基因多态性。IRAK1 是一种丝氨酸/苏氨酸激酶,CD40 是一种肿瘤坏死因子受体,两者都与 RA 相关。关于这些多态性的功能影响存在相互矛盾的结果,因此我们进行了这项研究以更准确地估计类风湿性关节炎的风险。

方法:200 名按照 ACR 标准诊断的 RA 患者和 200 名正常对照者参加了本病例对照研究。DNA纯化试剂盒(Gene Transfer Pioneers,GTP)用于提取基因组DNA,并通过PCR-RFLP对IRAK1 rs1059703(C/T)、CD40 rs1883832(C/T)和rs4810485(G/T)三个SNP进行基因分型. 通过卡方检验分析SNP的基因型和等位基因频率以检测它们对RA的贡献。

结果:发现 rs1059703 T 等位基因(OR = 2.36,95% CI = 1.7–3.1,p = .0001)与 TT 和 CT 基因型(TT 基因型,OR = 2.54,95%CI = 1.2–3.3,P = .0078,CT 基因型;就隐性和过度显性模型中对 RA 的易感性而言,RS1059703 C/T 多态性的 OR = 2.18 95%CI = 1.4–3.2P = .0002)。CD40 SNP 的等位基因和基因型在 RA 病例和对照之间没有显着差异。研究结果表明,rs1059703 IRAK1 基因型与患者的医学和实验室特征存在显着差异。

结论:我们的研究结果表明,IRAK1 基因的 rs1059703 T 等位基因(风险等位基因)增加了 RA 的风险和疾病的严重程度,影响了伊朗患者 RA 的发病年龄。

更新日期:2020-06-08
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