Investigating the possible association between NLRP3 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

doi:10.1002/mus.27193

Investigating the possible association between NLRP3 gene polymorphisms and myasthenia gravis

Muscle Nerve. 2021 May;63(5):730-736. doi: 10.1002/mus.27193. Epub 2021 Feb 18.

Authors

Elmira Agah^{1

2

3}, Shahriar Nafissi⁴, Fatemeh Saleh^{1

2

3}, Payam Sarraf¹, Abbas Tafakhori^{1

3}, Seyed Vahid Mousavi^{2

3}, Amene Saghazadeh^{2

5}, Maryam Sadr⁶, Farnaz Sinaei⁷, Bahareh Mohebbi⁶, Mahdi Mahmoudi⁸, Hamideh Shadi¹, Nima Rezaei^{9

10

11}

Affiliations

¹ Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
² Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran.
³ NeuroImmunology Research Association (NIRA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
⁴ Iranian Center for Neurological Research, Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
⁵ Systematic Review and Meta-Analysis Expert Group (SRMEG), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
⁶ Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
⁷ Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
⁸ Rheumatology Research Center (RRC), Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
⁹ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
¹⁰ Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
¹¹ Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

PMID: 33533549
DOI: 10.1002/mus.27193

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.

Keywords: NLRP3; inflammasome; myasthenia gravis; single-nucleotide polymorphisms.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles
Case-Control Studies
Female
Genetic Association Studies
Genetic Predisposition to Disease*
Genotype
Humans
Male
Middle Aged
Myasthenia Gravis / genetics*
NLR Family, Pyrin Domain-Containing 3 Protein / genetics*
Polymorphism, Single Nucleotide*

Substances

NLR Family, Pyrin Domain-Containing 3 Protein