Author:
Zou Jing,Zhang Guoping,Li Hongbin,Zhao Zikai,Zhang Qing,Pyykkö Ilmari,Mäkitie Antti
Abstract
BackgroundThe mechanisms of Meniere's disease (MD) remain largely unknown. The purpose of this study was to identify possible genetic variants associated with immune regulation in MD.MethodsThe whole immune genome of 16 Chinese patients diagnosed with sporadic MD was sequenced using next-generation sequencing.ResultsDefinite pathological variants of MEFV (c.1223G>A, c.1105C>T), COL7A1 (c.5287C>T), and ADA (c.445C>T) contributing to the clinical phenotype were found in three patients. Limited and likely pathological variants of TLR3 (c.2228G>A) and RAB27A (c.560G>A) were detected in one patient each. The following definite pathological variants impairing the structure and function of translated proteins were detected in 10 patients, and multigene variants occurred in five patients: PRF1 (c.710C>A), UNC13D (c.1228A>C), COLEC11 (c.169C>T), RAG2 (c.200G>C), BLM (c.1937G>T), RNF31 (c.2533G>A), FAT4 (c.11498A>G), PEPD (c.788A>G), TNFSF12 (c.470G>A), VPS13B (c.11972A>T), TNFRSF13B (c.226G>A), ERCC6L2 (c.4613A>G), TLR3 (c.2228G>A), ADA (c.445C>T), PEPD (c.151G>A), and MOGS (c.2470G>A). The following limited pathological variants impairing the structure and function of translated proteins were detected in five patients, with double gene variants identified in one patient: EXTL3 (c.1396G>A), MTHFD1 (c.2057G>A), FANCA (c.2039T>C), LPIN2 (c.1814C>T), NBAS (c.4049T>C), and FCN3 (c.734G>A).ConclusionPatients with sporadic MD carry multiple genetic variants involved in multiple steps of immune regulation, which might render patients susceptible to developing inflammation via both autoimmune and autoinflammation mechanisms upon internal stress.
Funder
National Natural Science Foundation of China
Subject
Neurology (clinical),Neurology
Reference58 articles.
1. The syndrome of physical or intrinsic allergy of the head; vasomotor rhinitis and the vasodilating pain syndrome, their relationship to myalgia and endolymphatic hydrops (Meniere's disease) and the reasons for including all four as the syndrome of physical allergy of the head;Williams;Proc Staff Meet Mayo Clin.,1946
2. Meniere's disease and allergy;Kjaer;Acta Otolaryngol.,1947
3. Circulating immune complexes in Meniere's disease;Brookes;Arch Otolaryngol Head Neck Surg.,1986
4. Antibodies to inner ear antigens in Meniere's disease;Riente;Clin Exp Immunol.,2004
5. Intratympanic methylprednisolone versus gentamicin in patients with unilateral Meniere's disease: A randomised, double-blind, comparative effectiveness trial;Patel;Lancet.,2016
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献