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Open Access Research article

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

Jason Yongha Kim1, Joon Seol Bae2, Ho Jin Kim3 and Hyoung Doo Shin14*

Author Affiliations

1 Department of Life Science, Sogang University, 1 Shinsu-dong, Seoul 121-742, Republic of Korea

2 Laboratory of Translational Genomics, Samsung Genome Institute, Samsung Medical Center, 81 Irwon-RoGangnam-Gu, Seoul 135-710, Republic of Korea

3 Department of Neurology, National Cancer Center, 809 Madu 1-dong, Ilsandong-gu, Gyeonggi-do 410-769, Korea

4 Department of Genetic Epidemiology, SNP Genetics, Inc, Seoul, Republic of Korea

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BMC Neurology 2014, 14:57  doi:10.1186/1471-2377-14-57

Published: 24 March 2014

Abstract

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, Pcorr = 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.

Keywords:
CD58; NMO; SNP; Haplotype