Analyze Of The Clinical Features And IRGM Polymorphism With Multiple Sclerosis And Neuromyelitis Optica In Chinese Han Population

Background and objective: To characterize the clinical features of NMO and MSpatients in Chinese Han populations, and to find out some comprehensive indicatorsthat can lead to a suggestive diagnosis of MS or NMO by comparing the clinical,laboratory, MRI and EPs features of Chinese MS and NMO patients.Methods: We conducted a retrospective review of65MS patients and73NMOpatients between2008and2011at the Department of neurology, Huashan Hospital.Results: Both MS and NMO patients in this study have a recurrence of their disorder.The ratio of female to male in NMO group is4.2:1, much higher than that in MSgroup (1.27:1; p=0.001). There are statistically significant differences in aspects ofNMO-IgG positive rate, visual evoked potential (VEP), oligoclonal bands (OB),IgG-index and total protein level between NMO and MS patients. The brainstemlesions were found in21.3%MS patients, over4times than in NMO group (4.8%,P=0.007). Statistical differences were observed in longitudinally extensive spinal cordlesions (LESCLs) and CD4+/CD8+ratio comparison between NMO-IgG positive andNMO-IgG negative patients.Conclusions: Comprehensive analysis MRI, laboratory and EPs evidences could beuseful when differentiating MS and NMO. Additionally, the combination of LESCLsand brain MRI findings that fail to satisfy MRI criteria for MS is highly sensitive andspecific for NMO. Background: Multiple sclerosis (MS) and neuromyelitis optica (NMO) are two mostcommon autoimmune diseases in department of neurology, characterized bydemyelination of the central nervous system. Recent studies have indicated that the ratLRG-47is closely related to animal model of experimental autoimmuneencephalomyelitis (EAE).Moreover, our previous study have found that the IRGM(Immunity-relative GTPase M), a homologous protein of rat LRG47, was upregulatedin the spinal cord lesions of MS patients, suggesting that IRGM may be associatedwith MS pathogenesis. Due to the fact that both MS and NMO are autoimmunedisease and their clinical manifestations are similar, IRGM might be also correlatedwith NMO onset, which has not been reported by now.Objectives: The aim of this study was to elucidate the correlation of IRMGpolymorphism with MS and NMO in Chinese Han Population.Methods: A total of659subjects including142MS patients,95NMO patients and422healthy controls were recruited from Huashan Hospital of Fudan University andthe First Affiliated Hospital of Fujian Medical University between2007and2010.Gene polymorphism of IRGM of the MS group, NMO group and control group werescreened by sequencing.Results:1.The genotype distribution and alleles of rs72553867in MS group weredifferent with Controls. Logistic regression manifested the risk of MS increased in CAcarriers in total MS group and female MS group. A allele (CA+AA) also increase therisk of MS compared with CC allele in MS group. However, no discrepancy wasfound in rs10065172.2. Compared NMO with Control, there were no significant statistical differencesgenotype distribution and allele frequencies in rs72553867and rs10065172(P>0.05).While in male group, the difference of genotype distribution and allele frequency of rs72553867were statistically significance.3. Compared MS with NMO group, there were no significant differences in genotypedistribution and allele frequency in rs72553867and rs10065172.Conclusions: IRGM gene rs72553867is associated with the incidence of MS, andcarriers with CA genotype have higher risk of MS, especially in female population.While in NMO group, the association only existed in male patients. Another SNPrs10065172has no association with the incidence of MS or NMO in our study.