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CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population

BACKGROUND: Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiatio...

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Autores principales: Kim, Jason Yongha, Bae, Joon Seol, Kim, Ho Jin, Shin, Hyoung Doo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998011/
https://www.ncbi.nlm.nih.gov/pubmed/24655566
http://dx.doi.org/10.1186/1471-2377-14-57
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author Kim, Jason Yongha
Bae, Joon Seol
Kim, Ho Jin
Shin, Hyoung Doo
author_facet Kim, Jason Yongha
Bae, Joon Seol
Kim, Ho Jin
Shin, Hyoung Doo
author_sort Kim, Jason Yongha
collection PubMed
description BACKGROUND: Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58) region was found to be susceptible for the risk of multiple sclerosis (MS) in Caucasian, and the association between CD58 variants and MS was replicated in Americans. However, no study has been conducted to explore the possible association between CD58 and NMO yet. Thus, this study aimed to investigate the association of CD58 polymorphisms with the risk of NMO in a Korean population. METHODS: Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO. RESULTS: The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, P(corr) = 0.01 ~ 0.04). CONCLUSION: The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.
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spelling pubmed-39980112014-04-25 CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population Kim, Jason Yongha Bae, Joon Seol Kim, Ho Jin Shin, Hyoung Doo BMC Neurol Research Article BACKGROUND: Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58) region was found to be susceptible for the risk of multiple sclerosis (MS) in Caucasian, and the association between CD58 variants and MS was replicated in Americans. However, no study has been conducted to explore the possible association between CD58 and NMO yet. Thus, this study aimed to investigate the association of CD58 polymorphisms with the risk of NMO in a Korean population. METHODS: Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO. RESULTS: The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, P(corr) = 0.01 ~ 0.04). CONCLUSION: The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development. BioMed Central 2014-03-24 /pmc/articles/PMC3998011/ /pubmed/24655566 http://dx.doi.org/10.1186/1471-2377-14-57 Text en Copyright © 2014 Kim et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Kim, Jason Yongha
Bae, Joon Seol
Kim, Ho Jin
Shin, Hyoung Doo
CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
title CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
title_full CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
title_fullStr CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
title_full_unstemmed CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
title_short CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
title_sort cd58 polymorphisms associated with the risk of neuromyelitis optica in a korean population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998011/
https://www.ncbi.nlm.nih.gov/pubmed/24655566
http://dx.doi.org/10.1186/1471-2377-14-57
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