Association of CD40 Gene Polymorphisms with Susceptibility to Neuromyelitis Optica Spectrum Disorders

The CD40 gene is associated with many autoimmune diseases; however, there are few studies in literatures that investigate the association between CD40 and neuromyelitis optica spectrum disorders (NMOSD). This study aimed to estimate the potential association of CD40 gene polymorphisms with susceptibility to NMOSD. Four SNPs (rs1883832, rs3765459, rs4810485, and rs6074022) were selected and genotyped in a Chinese cohort comprising 162 patients with NMOSD and 237 healthy controls. P values, odds ratios (ORs), and 95 % confidential intervals (CI) for four test models (allelic, additive, dominant, and recessive) were used to assess relationships between CD40 and NMOSD. Results showed that the rs3765459 variant was significantly associated with increased risk of NMOSD in allelic model (OR = 1.48, 95 % CI 1.10-1.98, P = 0.009, P ^corr = 0.037), and similar results were detected in the additive and recessive models (OR = 1.47, 95 % CI 1.09-1.97, P = 0.010, P ^corr = 0.042; OR = 2.12, 95 % CI 1.18-3.8, P = 0.012, P ^corr = 0.048, respectively). Other three SNPs showed protections on NMOSD in dominant models (rs6074022, OR = 0.64, 95 % CI 0.42-0.95, P = 0.031; rs1883832, OR = 0.65, 95 % CI 0.43-0.97, P = 0.036; and rs4810485, OR = 0.63, 95 % CI 0.42-0.95, P = 0.029, respectively), but not significantly after Bonferroni corrections for multiple tests. In addition, haplotype analysis of these SNPs in tight linkage did not reveal significant association with NMOSD. This study indicates that the rs3765459 variant in CD40 gene is associated with susceptibility to NMOSD. Larger sample size studies in other ethnicities are needed to verify this association.