These findings suggest that the T allele of rs2075575 is a risk for AQP4-Ab-positive NMO. However, the results are the opposite of a previous study in the southern Han Chinese population, and therefore further genetic studies are needed to determine the possible contribution of the AQP4 region to development of NMO.
These cases may enhance the understanding of the genetic contribution to NMO. Our findings suggest that familial history must be carefully examined in patients with NMO.
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