Abstract
Neuromyelitis optica spectrum disorders (NMOSD) comprise a variety of disorders being described by optic neuritis and myelitis. This disorder is mostly observed in sporadic form, yet 3% of cases are familial NMO. Different series of familial NMO cases have been reported up to now, with some of them being associated with certain HLA haplotypes. Assessment of HLA allele and haplotypes has also revealed association between some alleles within HLA-DRB1 or other loci and sporadic NMO. More recently, genome-wide SNP arrays have shown some susceptibility loci for NMO. In the current manuscript, we review available information about the role of genetic factors in NMO.
Highlights
Neuromyelitis optica spectrum disorders (NMOSD) comprise a variety of disorders being described by acute inflammatory responses in the optic nerve and spinal cord, i.e., optic neuritis and myelitis, respectively [1]
We review available information about the role of genetic factors in NMO
There was no correlation between distribution of HLA alleles and IgG antibody subgroups HLA-DRB1*10 allele was significantly associated with NMO disease
Summary
Neuromyelitis optica spectrum disorders (NMOSD) comprise a variety of disorders being described by acute inflammatory responses in the optic nerve and spinal cord, i.e., optic neuritis and myelitis, respectively [1]. Most of the NMOassociated genetic factors have been enriched pathways related with nervous system and immune responses [43] Another genome-wide study using an SNP array has identified the rs1964995 in the MHC region as a risk locus for TABLE 1 | Summary of the results of family studies in neuromyelitis optica [HLA, human leukocyte antigen, AQP4-Ab, aquaporin-4 antibody (NMO-IgG)]. Matiello et al have compared genotype frequencies of 8 SNPs within AQP4 gene in sporadic and familial NMO cases as well as healthy controls. One of these SNPs has been found to be associated with risk of NMO.
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