The autoimmune regulator (AIRE) gene controls autoimmunity via its transcript AIRE protein that suppresses naïve T cells during central selection. The role of AIRE polymorphism in rheumatoid arthritis (RA) autoimmunity remains elusive. This study aimed to investigate the association of two selected SNPs, namely, rs760426 and rs2075876, with RA susceptibility in the Suez Canal Zone population. The study population included 100 RA patients, and the control group included 100 healthy subjects who were age- and sex-matched to the RA group. SNP genotyping was performed using real-time polymerase chain reaction-based allelic discrimination assay, the odds ratio was defined to assess the strength of the association. For rs760426, combining genotypes data revealed a significant increase for A/G genotype in the RA cases (47%, n = 47) than in the control group (27%, n = 27) in both co-dominant and over-dominant models (P = 0.013 and 0.003 respectively). In addition, rs760426 correlated to duration of RA (P = 0.031) and anti-cyclic citrullinated peptide antibody (P = 0.021). For rs2075876, there was a significant increase in the A/A genotype in RA patients compared with control subjects. In the co-dominant model, the frequency of A/A was 14% and 7% respectively (P = 0.02). In contrast to rs760426, rs2075876 associated with the risk of increased body mass index (P = 0.014) and the positivity of rheumatoid factor (RF) (P = 0.043). The frequency of minor alleles, G allele in rs760426 SNP, and A allele in rs2075876 was higher in RA patients than in control. The haplotype frequency of both G and A alleles in rs760426 and rs2075876 receptively was 11% in RA group with statistically significant difference (P = <0.001) between RA patients and healthy control. SNPs rs760426 and rs2075876 in the AIRE gene may contribute to the risk for RA susceptibility. These two polymorphisms were associated with variable risk factors and predictive biomarkers for RA. The mutant allele (G) of rs760426 SNP has significant indication of poor prognosis.

中文翻译：

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自身免疫调节基因多态性与埃及人群对类风湿关节炎的敏感性相关。

自身免疫调节物（AIRE）基因通过其转录物AIRE蛋白控制中枢选择过程中的幼稚T细胞，从而控制自身免疫。AIRE基因多态性在类风湿关节炎（RA）自身免疫中的作用仍然难以捉摸。这项研究旨在调查两个选定的SNP，即rs760426和rs2075876，与苏伊士运河区人口的RA易感性。研究人群包括100名RA患者，对照组包括100名年龄和性别与RA组匹配的健康受试者。使用基于实时聚合酶链反应的等位基因鉴别分析进行SNP基因分型，定义比值比以评估关联的强度。对于rs760426，结合基因型数据，发现RA病例中A / G基因型显着增加（47％，在共显性模型和超显性模型中，n = 47）均高于对照组（27％，n = 27）（分别为P = 0.013和0.003）。另外，rs760426与RA的持续时间（P = 0.031）和抗环瓜氨酸肽抗体（P = 0.021）相关。对于rs2075876，与对照组相比，RA患者的A / A基因型显着增加。在共主导模型中，A / A的频率分别为14％和7％（P = 0.02）。与rs760426相反，rs2075876与增加体重指数（P = 0.014）和类风湿因子（RF）阳性（P = 0.043）相关。RA患者中的次要等位基因，rs760426 SNP中的G等位基因和rs2075876中的A等位基因的频率高于对照组。rs760426和rs2075876中G和A等位基因的单倍型频率在RA组中分别为11％，在RA患者和健康对照组之间具有统计学上的显着差异（P = <0.001）。AIRE基因中的SNP rs760426和rs2075876可能会增加RA易感性的风险。这两个多态性与RA的可变危险因素和预测性生物标志物有关。rs760426 SNP的突变等位基因（G）具有预后不良的重要迹象。