Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese--a case control study

J Neurol Sci. 2012 Mar 15;314(1-2):26-8. doi: 10.1016/j.jns.2011.11.005. Epub 2011 Nov 25.

Abstract

Background: Interleukin 17 (IL-17) plays an important role in many autoimmune diseases including neuromyelitis optica (NMO) and multiple sclerosis (MS), which are inflammatory demyelinating diseases of the central nervous system. A large number of non-HLA single nucleotide polymorphisms have been reported to increase the risk of MS. However, their effects on NMO have been less well studied.

Methods: Fifty-two anti-aquaporin 4 antibody-positive NMO patients, 69 anti-aquaporin 4 antibody-negative conventional MS patients, and 131 controls were genotyped for the IL-17A rs2275913 and IL-17F rs763780 single nucleotide polymorphisms by DNA sequencing.

Results: Significantly higher frequencies of the rs763780 T allele (p(uncorr)=0.011) and TT genotype (p(uncorr)=0.007, p(corr)=0.042) were observed in NMO patients versus controls.

Conclusions: The rs763780 T allele and TT genotype may increase susceptibility to NMO in the Southern Han Chinese.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aquaporin 4 / immunology*
  • Asian People
  • Autoantibodies / analysis*
  • Case-Control Studies
  • China / epidemiology
  • DNA / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interleukin-17 / genetics*
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics
  • Multiple Sclerosis / immunology
  • Neuromyelitis Optica / genetics*
  • Neuromyelitis Optica / immunology*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Single Nucleotide
  • Young Adult

Substances

  • Aquaporin 4
  • Autoantibodies
  • Interleukin-17
  • DNA