genetic variants drive autoimmune pathogenesis in multiple sclerosis and neuromyelitis optica spectrum disorders.

Objective: This study aims to investigate the association of Fc receptor-like 3 () gene variants with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) in a Chinese population cohort.

Methods: In Stage 1, 154 MS patients, 109 NMOSD patients, and 301 normal controls were recruited, Sequenom MassARRAY technology was used for genotyping single nucleotide polymorphisms (SNPs). Stage 2 involved an independent cohort of 95 MS patients, 139 NMOSD patients, and 226 normal controls. Two SNPs (rs7528684 and rs11264799) were determined using allele-specific polymerase chain reaction (PCR) with specific primers.

Results: Allele C of rs7528684 emerged as a protective factor for MS. Allele A of rs11264799 exhibited no significant effect on MS or NMOSD. A notable disparity in rs7528684 genotype distribution was observed between oligoclonal band (OCB)-positive and OCB-negative MS patients. Allele C of rs7528684 exhibited an association with OCB-positive MS patients.

Conclusion: The findings suggest that the variant (rs7528684) is associated with MS rather than NMOSD. might significantly contribute to OCB synthesis, while the underlying mechanisms warrant further elucidation.