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Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease.

机译:在炎症性肠病中,信号转导子和转录激活子与4种遗传变异与肠外表现相关。

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AIMS: The STAT4 gene encodes a transcription factor which plays an important role in the development of inflammation of many immune-mediated diseases. We investigated the relationship between STAT4 single nucleotide polymorphisms (SNPs) and susceptibility to ulcerative colitis (UC) and Crohn's disease (CD) and disease phenotypes in the Korean population. MAIN METHODS: We performed a case-control association study in individuals with UC (N=246), CD (N=182), and healthy controls (N=229). KEY FINDINGS: We genotyped 8 STAT4 SNPs (rs11889341, rs7574865, rs8179673, rs6752770, rs925847, rs10168266, rs10181656, and rs11685878) in the STAT4 gene in patients and controls. SNP rs925847 in the STAT4 gene was significantly associated with susceptibility to UC (P=0.025; OR=0.63) in dominant genotype analysis, though none of these SNPs were associated with CD susceptibility. Moreover, a significant association was identified between SNP rs11889341 and joint involvement (P=0.040; OR=3.79), and between SNP rs925847 and eye involvement (P=0.030; OR=2.42) in UC patients. For CD, rs925847 genetic variant was associated with joint (P=0.029; OR=3.93) and perianal lesions (P=0.033; OR=2.27). SIGNIFICANCE: Our data demonstrated that the STAT4 genetic variants could predispose an individual to IBD and its extra-intestinal ailments in Koreans, suggesting the common pathogenesis of IBD (especially, extra-intestinal manifestations) and other autoimmune diseases.
机译:目的:STAT4基因编码一种转录因子,在许多免疫介导的疾病的炎症发展中起重要作用。我们调查了STAT4单核苷酸多态性(SNPs)与溃疡性结肠炎(UC)和克罗恩病(CD)和疾病表型的易感性之间的关系。主要方法:我们对患有UC(N = 246),CD(N = 182)和健康对照(N = 229)的个体进行了病例对照关联研究。关键发现:我们在患者和对照组的STAT4基因中对8个STAT4 SNP(rs11889341,rs7574865,rs8179673,rs6752770,rs925847,rs10168266,rs10181656和rs11685878)进行了基因分型。在显性基因型分析中,STAT4基因中的SNP rs925847与对UC的敏感性显着相关(P = 0.025; OR = 0.63),尽管这些SNP均与CD敏感性无关。此外,在UC患者中,SNP rs11889341与关节受累之间(P = 0.040; OR = 3.79)以及SNP rs925847与眼受累之间(P = 0.030; OR = 2.42)之间存在显着相关性。对于CD,rs925847遗传变异与关节(P = 0.029; OR = 3.93)和肛周病变(P = 0.033; OR = 2.27)相关。意义:我们的数据表明,STAT4基因变异可能使一个人易患IBD及其在韩国人的肠外疾病,这提示了IBD(尤其是肠外表现)和其他自身免疫性疾病的常见发病机制。

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