title: No association ofAQP4polymorphisms with neuromyelitis optica and multiple sclerosis.
abstract: 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.AQP4is expressed in astrocytes of the brain, spinal cord, optic nerve and supportive cells in sensory organs. In contrast to MS, immunoreactivity ofAQP4is abolished in NMO lesions. However, conflicting results have been reported regarding the association betweenAQP4polymorphisms and demyelinating disorders. Considering the ethnic differences of genetic variations, replications in other cohorts are required. In this study, single nucleotide polymorphisms (SNPs) ofAQP4gene in patients with NMO/neuromyelitis optica spectrum disorders (NMOSD), and MS in the Northern Han Chinese population were examined. Six selectedAQP4SNPs were genotyped by high-resolution melting (HRM) method. Compared with healthy control (HC), there was no significant difference ofAQP4allele and genotype frequency in MS or NMO/NMOSD group. This study showed no significant association of commonAQP4SNPs with MS or NMO/NMOSD, strongly suggesting that polymorphisms ofAQP4gene are unlikely to confer MS or NMO/NMOSD susceptibility, at least in Northern Han Chinese population.
authors.affiliation: Department of Neurology, Beijing Tsinghua Changgung Hospital, Beijing, 102218, P. R. China.
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: Yang
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Yang
authors.initials: Y
authors.lastname: He
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Ya-Juan
authors.initials: YJ
authors.lastname: Xiang
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Dong-Hui
authors.initials: DH
authors.lastname: Ao
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Yang-Yang
authors.initials: YY
authors.lastname: Wang
authors.affiliation: Key Laboratory Centre, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Key Laboratory Centre, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Xiang-Jun
authors.initials: XJ
authors.lastname: He
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Shan-Shan
authors.initials: SS
authors.lastname: Zhong
authors.affiliation: Department of Neurology, Beijing Tsinghua Changgung Hospital, Beijing, 102218, P. R. China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, 100044, P. R. China.
authors.forename: Guang-Zhi
authors.initials: GZ
authors.lastname: Liu
keywords: Aquaporin 4 (AQP4) gene; Multiple sclerosis; Neuromyelitis optica; Neuromyelitis optica spectrum disorders; Single nucleotide polymorphisms (SNPs)