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

S Hanaei; M Sadr; A Rezaei; S Shahkarami; N Ebrahimi Daryani; A Z Bidoki; N Rezaei

doi:10.1016/j.clinre.2017.09.003

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

Clin Res Hepatol Gastroenterol. 2018 Jun;42(3):269-275. doi: 10.1016/j.clinre.2017.09.003. Epub 2017 Nov 2.

Authors

S Hanaei¹, M Sadr¹, A Rezaei², S Shahkarami³, N Ebrahimi Daryani⁴, A Z Bidoki⁵, N Rezaei⁶

Affiliations

¹ Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
² Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
³ Department of Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
⁴ Department of Internal Medicine, Division of Gastroenterology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
⁵ The John Curtin School of Medical Research, Australian National University, Canberra 2601, Australia; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Canberra, Australia.
⁶ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Sheffield, UK. Electronic address: [email protected].

PMID: 29102545
DOI: 10.1016/j.clinre.2017.09.003

Abstract

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.

Keywords: NLRP3; Single nucleotide polymorphisms; Ulcerative colitis.

MeSH terms

Case-Control Studies
Colitis, Ulcerative / genetics*
Female
Humans
Iran
Male
NLR Family, Pyrin Domain-Containing 3 Protein / genetics*
Polymorphism, Single Nucleotide*

Substances

NLR Family, Pyrin Domain-Containing 3 Protein
NLRP3 protein, human