Genetic analysis of aquaporin-4 in neuromyelitis optica.

  title={Genetic analysis of aquaporin-4 in neuromyelitis optica.},
  author={Marcelo Matiello and Janet L Schaefer-Klein and David D Hebrink and Daniel J. Kingsbury and Elizabeth J. Atkinson and Brian G. Weinshenker},
  volume={77 12},
OBJECTIVE Autoantibodies to aquaporin-4 (AQP4) are specific and pathogenic for neuromyelitis optica (NMO). Therefore, we evaluated whether AQP4 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to NMO or whether mutations that potentially alter AQP4 structure or expression are present in some patients. METHODS We genotyped 8 AQP4 SNPs chosen based on their minor allele frequency, location, and novelty in 177 NMO sporadic cases, 14 NMO familial cases, and 1,363 matched… CONTINUE READING
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