title: CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population.
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, P(corr) = 0.01 ~ 0.04).
  
  
  CONCLUSIONS
  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.
authors.forename: Jason Yongha
authors.initials: JY
authors.lastname: Kim
authors.forename: Joon Seol
authors.initials: JS
authors.lastname: Bae
authors.forename: Ho Jin
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Life Science, Sogang University, 1 Shinsu-dong, Seoul 121-742, Republic of Korea. hdshin@sogang.ac.kr.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018968:CD58 Antigens / Q000235:genetics*; D002648:Child; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009471:Neuromyelitis Optica / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011159:Population Surveillance / Q000379:methods; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors; D055815:Young Adult
chemical_list: D018968:CD58 Antigens