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5
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伊拉克-4 rs4251481 基因变异:作为炎症性肠病的风险因素。

Irak-4 rs4251481 gene variant: as a risk factor on inflammatory bowel disease.

出版信息

Turk J Med Sci. 2019 Apr 18;49(2):478-482. doi: 10.3906/sag-1807-279.

DOI:10.3906/sag-1807-279
PMID:30997787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7018251/
Abstract

BACKGROUND/AIM: Abnormal immune response occurs in individuals who have alleles associated with innate and adaptive immune mechanisms that predispose to inflammatory bowel disease (IBD). Interleukin-1 receptor-associated kinase 4 (IRAK-4) involved in the pathway produces cytokines that initiate and maintain inflammation through Toll-like receptors and interleukin-1 receptors on the membranes of innate immune cells are stimulated with antigens. It was aimed to investigate whether IRAK-4 rs3794262 and rs4251481 polymorphisms predispose to IBD and the possible effects of these polymorphisms by examining these gene polymorphisms with the clinic and prognostic parameters of IBD.

MATERIALS AND METHODS

Real-time PCR technique was used to detect IRAK-4 polymorphisms in 107 patients with IBD and 103 healthy controls.

RESULTS

As a result of experimental studies, the frequency of occurrence of rs4251481 polymorphism related AG genotype (P = 0.029) and G allele (P = 0.005) was found to increase statistically in patients compared to controls. In the control group, the rs4251481 AA genotype rate of incidence increased compared with the patient group (P = 0.005).

CONCLUSION

Consequently, this is the first study in terms of both polymorphisms on IBD. These results suggest that rs4251481 AG genotype and G allele are associated with increased IBD risk in patients.

摘要

背景/目的:在具有与先天和适应性免疫机制相关等位基因的个体中会发生异常免疫反应,这些等位基因易患炎症性肠病 (IBD)。参与该途径的白细胞介素-1受体相关激酶 4 (IRAK-4) 产生细胞因子,通过先天免疫细胞上的 Toll 样受体和白细胞介素-1 受体刺激抗原,启动和维持炎症。本研究旨在探讨 IRAK-4 rs3794262 和 rs4251481 多态性是否易患 IBD,并通过检查这些基因多态性与 IBD 的临床和预后参数来研究这些多态性的可能影响。

材料和方法

采用实时 PCR 技术检测 107 例 IBD 患者和 103 例健康对照者 IRAK-4 多态性。

结果

实验研究结果显示,与对照组相比,患者中 rs4251481 多态性相关的 AG 基因型(P = 0.029)和 G 等位基因(P = 0.005)的发生频率统计学上增加。在对照组中,与患者组相比,rs4251481 AA 基因型的发生率增加(P = 0.005)。

结论

因此,这是关于 IBD 的这两种多态性的第一项研究。这些结果表明,rs4251481 AG 基因型和 G 等位基因与患者中 IBD 风险增加相关。