Association of NLRP3 single nucleotide polymorphisms with ulcerative colitis: A case-control study

• Published in: Clinics and research in hepatology and gastroenterology Vol. 42; no. 3; pp. 269 - 275
• Main Authors: Hanaei, S, Sadr, M, Rezaei, A, Shahkarami, S, Ebrahimi Daryani, N, Bidoki, A Z, Rezaei, N
• Format: Journal Article
• Language: English
• Published: France 01.06.2018
• Subjects: Case-Control Studies; Colitis, Ulcerative - genetics; Female; Humans; Iran; Male; NLR Family, Pyrin Domain-Containing 3 Protein - genetics; Polymorphism, Single Nucleotide; Iran; NLRP3; Single nucleotide polymorphisms; Ulcerative colitis
• ISSN: 2210-7401; 2210-741X
• DOI: 10.1016/j.clinre.2017.09.003

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. 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. 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. Despite no significant association between three investigated SNPs and disease, "GG" and "CG" genotypes of rs10754558 have been significantly associated with disease.