Associations of BAFF rs2893321 polymorphisms with myasthenia gravis susceptibility

Hui Deng,Tingting Yi,Lihua Wang,Xiaotong Kong,Huixue Zhang,Jianjian Wang,Tianfeng Wang,Wenqi Tian

doi:10.1186/s12881-019-0906-8

Abstract

BackgroundMyasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. B-lymphocyte-activating factor (BAFF), an essential factor for B cell differentiation and development, is important in the progression of MG. The current study aimed to investigate the association between single nucleotide polymorphism rs2893321 in BAFF with MG susceptibility in Chinese Han population.MethodsOne hundred forty-nine patients with MG and 148 healthy controls were recruited. Using improved multiple ligase detection reaction technology, the polymorphisms of rs2893321 between groups and among MG subgroups have been compared.ResultsA significant differences between the MG group and the healthy control group was observed. Additionally, rs2893321 was found to be associated with gender and age in patients with MG.ConclusionGenetic variations of rs2893321 in BAFF might be associated with susceptibility to MG in the Chinese Han population.

Highlights

Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles
We examined the polymorphisms of B-lymphocyte-activating factor (BAFF) rs2893321 in Chinese patients with MG and in healthy controls to determine its association with genetic susceptibility to MG
The results demonstrated that the frequencies of the AA genotype of rs2893321 were significantly higher in patients with MG than in the healthy controls, which suggests that rs2893321 might be associated with MG susceptibility in this ethnic Chinese Han population

Summary

Introduction

Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. MG is characterized by fatigue and weakness of skeletal muscles [1]. It is relatively rare, with a prevalence rate of 40 to 80 per million and an annual incidence rate of 4 to 12 per million [2]. In about 80% of patients with MG, acetylcholine receptor (AChR) is the autoantigen, and antibodies against AChR can be detected [3]. In AChRnegative patients, antibodies against other neuromuscular junction proteins, such as low-density lipoprotein receptor-related protein 4 (LRP4) and muscle specific kinase (MuSK), are usually observed [4]. The pathogenesis in MG has been elucidated, the underlying mechanism of this disease remains unclear

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Conclusion