Basic information of NLRP3 :
| Official Symbol of Gene | NLRP3 |
| Species | Homo sapiens |
| Entrez Gene ID | 114548 |
| Official Full Name | NLR family pyrin domain containing 3 |
| Also known as | AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000162711 MIM:606416; AllianceGenome:HGNC:16400 |
| Map Location | 1q44 |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Iranian |
| Sample Size | 150 Iranian patients with relapsing-remitting MS (RRMS) in comparison with 100 healthy controls. |
Literature information of multiple sclerosis :
| Pubmed ID | 30264444 |
| Year | 2018 |
| Title | Association of nod-like receptor protein-3 single nucleotide gene polymorphisms and expression with the susceptibility to relapsing-remitting multiple sclerosis |
Results of multiple sclerosis :
| Expression | down-regulation |
| Risk type | disease risk |
| Result | In this study, we found that NLRP3 rs3806265 C allele and CC genotype were significantly more frequent in the RRMS patients (p value = 0.03 OR = 1.66, 95% CI = 1.14-2.43) and p value = 0.04, OR = 3.26, 95% CI = 1.19-8.93, respectively), while the frequency of T allele significantly decreased in controls (p value = 0.03, OR = 0.6, 95% CI = 0.41-0.87). The frequency of CG genotype at position rs10754558 was also significantly higher in the controls compared with patients (p value = 0.03, OR = 0.5, 95% CI = 0.30-0.80). |
| Mechanism/Pathway | These polymorphisms are suggested to be associated with the basal levels of ILâ€1β and ILâ€18.The G allele in rs10754558 was shown to enhance NLRP3 Mrna stability,leading to increased ILâ€1 and ILâ€18 secretion |
