No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis

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....

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Autores principales:	Yang Ting-Ting, He Yang, Xiang Ya-Juan, Ao Dong-Hui, Wang Yang-Yang, Zhang Qi, He Xiang-Jun, Zhong Shan-Shan, Wu Jian, Liu Guang-Zhi
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2016
Materias:	aquaporin 4 (aqp4) gene multiple sclerosis neuromyelitis optica neuromyelitis optica spectrum disorders single nucleotide polymorphisms (snps) Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/dd60e69af88f4eafb8476a098fe54ada
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spelling	oai:doaj.org-article:dd60e69af88f4eafb8476a098fe54ada2021-12-05T14:11:04ZNo association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis2081-693610.1515/tnsci-2016-0012https://doaj.org/article/dd60e69af88f4eafb8476a098fe54ada2016-01-01T00:00:00Zhttps://doi.org/10.1515/tnsci-2016-0012https://doaj.org/toc/2081-6936Multiple 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. AQP4 is expressed in astrocytes of the brain, spinal cord, optic nerve and supportive cells in sensory organs. In contrast to MS, immunoreactivity of AQP4 is abolished in NMO lesions. However, conflicting results have been reported regarding the association between AQP4 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 AQP4 gene in patients with NMO/neuromyelitis optica spectrum disorders (NMOSD), and MS in the Northern Han Chinese population were examined. Six selected AQP4 SNPs were genotyped by high-resolution melting (HRM) method. Compared with healthy control (HC), there was no significant difference of AQP4 allele and genotype frequency in MS or NMO/NMOSD group. This study showed no significant association of common AQP4 SNPs with MS or NMO/NMOSD, strongly suggesting that polymorphisms of AQP4 gene are unlikely to confer MS or NMO/NMOSD susceptibility, at least in Northern Han Chinese population.Yang Ting-TingHe YangXiang Ya-JuanAo Dong-HuiWang Yang-YangZhang QiHe Xiang-JunZhong Shan-ShanWu JianLiu Guang-ZhiDe Gruyterarticleaquaporin 4 (aqp4) genemultiple sclerosisneuromyelitis opticaneuromyelitis optica spectrum disorderssingle nucleotide polymorphisms (snps)Neurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENTranslational Neuroscience, Vol 7, Iss 1, Pp 76-83 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	aquaporin 4 (aqp4) gene multiple sclerosis neuromyelitis optica neuromyelitis optica spectrum disorders single nucleotide polymorphisms (snps) Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	aquaporin 4 (aqp4) gene multiple sclerosis neuromyelitis optica neuromyelitis optica spectrum disorders single nucleotide polymorphisms (snps) Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Yang Ting-Ting He Yang Xiang Ya-Juan Ao Dong-Hui Wang Yang-Yang Zhang Qi He Xiang-Jun Zhong Shan-Shan Wu Jian Liu Guang-Zhi No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis
description	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. AQP4 is expressed in astrocytes of the brain, spinal cord, optic nerve and supportive cells in sensory organs. In contrast to MS, immunoreactivity of AQP4 is abolished in NMO lesions. However, conflicting results have been reported regarding the association between AQP4 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 AQP4 gene in patients with NMO/neuromyelitis optica spectrum disorders (NMOSD), and MS in the Northern Han Chinese population were examined. Six selected AQP4 SNPs were genotyped by high-resolution melting (HRM) method. Compared with healthy control (HC), there was no significant difference of AQP4 allele and genotype frequency in MS or NMO/NMOSD group. This study showed no significant association of common AQP4 SNPs with MS or NMO/NMOSD, strongly suggesting that polymorphisms of AQP4 gene are unlikely to confer MS or NMO/NMOSD susceptibility, at least in Northern Han Chinese population.
format	article
author	Yang Ting-Ting He Yang Xiang Ya-Juan Ao Dong-Hui Wang Yang-Yang Zhang Qi He Xiang-Jun Zhong Shan-Shan Wu Jian Liu Guang-Zhi
author_facet	Yang Ting-Ting He Yang Xiang Ya-Juan Ao Dong-Hui Wang Yang-Yang Zhang Qi He Xiang-Jun Zhong Shan-Shan Wu Jian Liu Guang-Zhi
author_sort	Yang Ting-Ting
title	No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis
title_short	No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis
title_full	No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis
title_fullStr	No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis
title_full_unstemmed	No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis
title_sort	no association of aqp4 polymorphisms with neuromyelitis optica and multiple sclerosis
publisher	De Gruyter
publishDate	2016
url	https://doaj.org/article/dd60e69af88f4eafb8476a098fe54ada
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_version_	1718371448320425984

No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis

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