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Investigating the possible association between <scp>NLRP3</scp> gene polymorphisms and myasthenia gravis

Elmira Agah, Shahriar Nafissi, Fatemeh Saleh, Payam Sarraf, Abbas Tafakhori, Seyed Vahid Mousavi, Amene Saghazadeh, Maryam Sadr, Farnaz Sinaei, Bahareh Mohebbi, Mahdi Mahmoudi, Hamideh Shadi, Nima Rezaei

2021Muscle & Nerve16 citationsDOI

Abstract

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.

Topics & Concepts

Single-nucleotide polymorphismMyasthenia gravisSNPGenotypeGenotypingAlleleMedicineImmunologyPyrin domainTaqManPolymorphism (computer science)Confidence intervalSNP genotypingHuman leukocyte antigenInternal medicineGeneBiologyGeneticsAntigenReceptorReal-time polymerase chain reactionInflammasomeMyasthenia Gravis and ThymomaInflammasome and immune disordersAutoimmune Neurological Disorders and Treatments