Lack of association between AQP4 polymorphisms and risk of inflammatory demyelinating disease in a Korean population |
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Authors: | Tae-Joon Park Jeong-Hyun Kim Ho Jin Kim Joon Seol Bae Hyun Sub Cheong Byung Lae Park Hyoung Doo Shin |
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Institution: | 1. Department of Life Science, Sogang University, Seoul, Republic of Korea;2. Department of Neurology, National Cancer Center, Goyang-si, Gyeonggi-do, Republic of Korea;3. Laboratory of Translational Genomics, Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea;4. Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, Republic of Korea |
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Abstract: | Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating autoimmune inflammatory diseases that affect the central nervous system (CNS). Previous genome-wide or candidate gene studies have suggested that genetic variants might be associated with the risk of MS or NMO. Aquaporin 4 (AQP4) is a commonly distributed water channel in astrocytes of the CNS, and its expression is decreased in NMO lesions due to astrocyte cytotoxicity. Previous studies have suggested the associations of AQP4 single nucleotide polymorphisms (SNPs) with MS and/or NMO. However, there have been few replication studies in various ethnic populations. This study, as the first of its kind performed in an Asian population, investigated associations of AQP4 SNPs with the risk of inflammatory demyelinating disease (IDD), including MS and NMO, in a Korean population. A total of seven common AQP4 SNPs were selected based on status of linkage disequilibrium (LD), and then genotyped in 178 IDD cases (79 MS and 99 NMO patients) and 237 normal controls. Statistical analyses showed no significant associations between AQP4 SNPs/haplotypes and development of IDD, including MS and NMO (P > 0.05). Further replications in larger cohorts and other ethnic groups are needed. |
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Keywords: | SNP single nucleotide polymorphism CNS central nervous system IDD inflammatory demyelinating disease MS multiple sclerosis NMO neuromyelitis optica AQP4 aquaporin 4 |
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