Association of CD58 gene polymorphisms with NMO spectrum disorders in a Han Chinese population

- CD58 polymorphisms are associated with the risk of NMOSD in Han Chinese.
- We identified a new NMOSD susceptibility variant, rs56302466.
- The haplotype TAGCCCAA significantly increases the risk of NMOSD.
- The haplotype TATTACGG reduces the risk of NMOSD.

This study aimed to perform a comprehensive assessment of the association between CD58 polymorphisms and the risk of neuromyelitis optica spectrum disorders (NMOSD) in a Han Chinese population. Nine single-nucleotide polymorphisms (SNPs) were genotyped in 230 NMOSD patients and 487 healthy controls. Five SNPs were significantly associated with an increased risk of NMOSD (rs2300747, rs1335532, rs56302466, rs1016140, and rs12044852). The haplotype TAGCCCAA significantly increased the risk of NMOSD, while TATTACGG reduced the risk. In conclusion, this study identified a new NMOSD susceptibility variant, rs56302466, and suggested that CD58 polymorphisms are associated with the risk of NMOSD in Han Chinese.

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