Multiple sclerosis (MS) and neuromyelitis optica (NMO) are inflammatory demyelinating disorders of the central nervous system (CNS). Various genetic and environmental factors have been identified to contribute to etiology of MS and NMO. Aquaporin 4 (AQP4), is the most abundant water channel in CNS. is expressed in astrocytes of the brain, spinal cord, optic nerve and supportive cells in sensory organs. In contrast to MS, immunoreactivity of is abolished in NMO lesions. However, conflicting results have been reported regarding the association between polymorphisms and demyelinating disorders. Considering the ethnic differences of genetic variations, replications in other cohorts are required. In this study, single nucleotide polymorphisms (SNPs) of gene in patients with NMO/neuromyelitis optica spectrum disorders (NMOSD), and MS in the Northern Han Chinese population were examined. Six selected SNPs were genotyped by high-resolution melting (HRM) method. Compared with healthy control (HC), there was no significant difference of allele and genotype frequency in MS or NMO/NMOSD group. This study showed no significant association of common SNPs with MS or NMO/NMOSD, strongly suggesting that polymorphisms of gene are unlikely to confer MS or NMO/NMOSD susceptibility, at least in Northern Han Chinese population.
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| http://dx.doi.org/10.1515/tnsci-2016-0012 | DOI Listing |
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