NLRP3单核苷酸多态性与溃疡性结肠炎的关联：一项病例对照研究。
Association of NLRP3 single nucleotide polymorphisms with ulcerative colitis: A case-control study.
作者信息
Hanaei S, Sadr M, Rezaei A, Shahkarami S, Ebrahimi Daryani N, Bidoki A Z, Rezaei N
机构信息
Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Clin Res Hepatol Gastroenterol. 2018 Jun;42(3):269-275. doi: 10.1016/j.clinre.2017.09.003. Epub 2017 Nov 2.
BACKGROUND
Ulcerative colitis (UC) is inflammatory bowel disease (IBD), characterized by chronic inflammation episodes within mucosal layer of the intestine mostly affecting colon and rectum. As the role of innate immunity in pathogenesis of disease and important role of NLRP3, the aim of this study is to investigate the association of NLRP3 SNPs with UC in Iranian patients.
METHODS
Blood samples from 45 UC patients and 56 healthy subjects were tested for single nucleotide polymorphisms in rs10754558, rs3806265, rs4612666, and rs35829419 of NLRP3 gene, using real-time PCR method.
RESULTS
Among the investigated SNPs, "GG" genotype of rs10754558 have been 2.48 times more common among UC patients (P=0.04), while "CG" genotype has indicated protective effect against UC, as more frequently found in healthy subjects.
CONCLUSION
Despite no significant association between three investigated SNPs and disease, "GG" and "CG" genotypes of rs10754558 have been significantly associated with disease.
背景
溃疡性结肠炎（UC）是一种炎症性肠病（IBD），其特征是肠道黏膜层内的慢性炎症发作，主要影响结肠和直肠。鉴于固有免疫在疾病发病机制中的作用以及NLRP3的重要作用，本研究旨在调查伊朗患者中NLRP3单核苷酸多态性（SNP）与UC的关联。
方法
采用实时聚合酶链反应（PCR）方法，对45例UC患者和56例健康受试者的血液样本进行NLRP3基因rs10754558、rs3806265、rs4612666和rs35829419单核苷酸多态性检测。
结果
在所研究的SNP中，rs10754558的“GG”基因型在UC患者中出现的频率是健康受试者的2.48倍（P = 0.04），而“CG”基因型对UC具有保护作用，在健康受试者中更常见。
结论
尽管所研究的三个SNP与疾病之间无显著关联，但rs10754558的“GG”和“CG”基因型与疾病显著相关。
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