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

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-17 F 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. (C) 2011 Elsevier B.V. All rights reserved.