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

Hanaei, Sara; Sadr, Maryam; Rezaei, Arezou; Shahkarami, Sepideh; Daryani, Nasser Ebrahimi; Bidoki, Alireza Zare; Rezaei, Nima

doi:10.1016/j.clinre.2017.09.003

Cited by 29 publications

(26 citation statements)

References 17 publications

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“…A recent GWAS meta-analysis has shown that SNPs that affect receptors downstream of NLRP3, such as IL18R1, IL1R1, IL1RL1, IL1RL2, and IL1R2, are associated with susceptibility to IBD (83). In a lately case-control study, SNPs in NLRP3 (rs10754558) have been significantly associated with UC, as “GG” genotype of rs10754558 was 2.48 times more common among UC patients ( P = 0.04), while “CG” genotype was more frequently found in healthy subjects (84). These results suggest that the polymorphisms of NLRP3 gene may lead to a decrease in the expression of the NLRP3 inflammasome and affect genetic susceptibility to IBD.…”

Section: Nlrp3 Inflammasome In Gut Homeostasis and Ibdmentioning

confidence: 99%

NLRP3 Inflammasome and Inflammatory Bowel Disease

2019

Front. Immunol.

442

305

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NLRP3 inflammasome can be widely found in epithelial cells and immune cells. The NOD-like receptors (NLRs) family member NLRP3 contains a central nucleotide-binding and oligomerization (NACHT) domain which facilitates self-oligomerization and has ATPase activity. The C-terminal conserves a leucine-rich repeats (LRRs) domain which can modulate NLRP3 activity and sense endogenous alarmins and microbial ligands. In contrast, the N-terminal pyrin domain (PYD) can account for homotypic interactions with the adaptor protein-ASC of NLRP3 inflammasome. These characters enable it function in innate immunity. Its downstream effector proteins include caspase-1 and IL-1β etc. which exhibit protective or detrimental roles in mucosal immunity in different studies. Here, we comprehensively review the current literature regarding the physiology of NLRP3 inflammasome and its potential roles in the pathogenesis of IBD. We also discuss about the complex interactions among the NLRP3 inflammasome, mucosal immune response, and gut homeostasis as found in experimental models and IBD patients.

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Section: Nlrp3 Inflammasome In Gut Homeostasis and Ibdmentioning

confidence: 99%

NLRP3 Inflammasome and Inflammatory Bowel Disease

2019

Front. Immunol.

442

305

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“…27 According to a study presented by Hanaei et al, rs10754558 (GG genotype) increased the risk of ulcerative colitis in the Iranian population (UC). 46 Utilizing a functional assay, Villani and colleagues demonstrated that the minor allele of rs6672995 (A allele), lied at the downstream regulatory region of NLRP3, increases the expression of this gene. Also, in this study, they reported that the G allele in rs6672995 is significantly higher in samples with Crohn's disease.…”

Section: Discussionmentioning

confidence: 99%

Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

Ehtesham

Rafie

Esmaeilzadeh

et al. 2021

Lupus

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Objective Nod-like receptor pyrin domain containing 3 ( NLRP3) gene encodes an intracellular receptor whose dysregulation in systemic lupus erythematosus (SLE) has been reported in multiple studies. Activation of NLRP3 inflammasome leads to the induction of inflammatory response via cleaving and producing of specific cytokines. In the present study, we assessed the possible association between three functional polymorphisms in this gene and SLE risk in the Iranian population. These variants include two gain of function (rs4612666 and rs10754558) and one loss of function (rs6672995) which are correlated with modulation of expression of NLRP3. Methods A case-control study involving 110 SLE patients and 116 control subjects was undertaken to estimate the frequency of rs4612666, rs10754558, and rs6672995 genotypes using real-time PCR high resolution melting method (HRM). Results Our findings revealed significant associations between GG genotype and G allele of rs10754558 with increased risk of SLE (OR for GG genotype= 2.82; 95%CI [1.45–5.46]/OR for G allele= 1.97; 95%CI [1.36–2.87]). Although, no significant associations were recognized between allele and genotype frequencies of rs4612666 and rs6672995 polymorphisms with SLE risk ( P > 0.05). Also, our analysis revealed that the C allele in rs4612666 and G allele in rs10754558 was correlated with the severity of disease activity (P < 0.001). Moreover, these common variants were associated with lower age of onset and some clinical symptoms in the patient group, such as skin manifestation, neurological symptom and, renal involvement (P < 0.05). Conclusion This study demonstrates a substantial association between NLRP3 polymorphisms with increased risk, clinical symptoms, and the severity of disease activity of SLE.

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“…None of these patients had a history of autoimmune disease. NLRP3 SNPs alleles and genotypes in the control group were available from our previous studies 19,22 . All participants signed an informed consent form.…”

Section: Methodsmentioning

confidence: 99%

Investigating the possible association between NLRP3 gene polymorphisms and myasthenia gravis

et al. 2021

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Introduction In this case‐control study, we investigated the association between nucleotide oligomerization domain‐like receptor family pyrin domain containing 3 (NLRP3) single‐nucleotide polymorphisms (SNPs) rs10754558, rs3806265, rs4612666, and rs35829419 and myasthenia gravis (MG). Methods Samples from MG patients were selected from a previous study conducted in our neuromuscular clinic, which investigated the association between human leukocyte antigen (HLA) class II genes and MG. Genetic data of controls were also available from another study. The NLRP3 SNPs genotyping was performed using the TaqMan method. Results A total of 93 blood samples from eligible Iranian patients with MG and 56 samples from healthy controls were obtained. The NLRP3 rs3806265 “C” allele was significantly more frequent in MG patients (P < .001; odd ratio [OR] = 2.33, 95% confidence interval [CI]: 1.4‐4.0) than controls. The “CC” genotype of this SNP was found in 18.27% of patients, but none of the controls (P < .001). The distribution of other SNPs was similar between the groups. Discussion These preliminary results suggest that there might be some associations between the NLRP3 gene polymorphism and MG.

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

Cited by 29 publications

References 17 publications

NLRP3 Inflammasome and Inflammatory Bowel Disease

NLRP3 Inflammasome and Inflammatory Bowel Disease

Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

Investigating the possible association between NLRP3 gene polymorphisms and myasthenia gravis

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