Association between KCNJ2 downstream rs312691，rs623011 polymorphism and thyrotoxic periodic paralysis

Abstract:

Objective：To verify the relationship between the polymorphism of rs312691，rs623011 and thyrotoxic periodic paralysis（TPP）. Methods：Totally 112 male TPP patients were recruited and taken as experimental group，127 male patients with Graves’ dis－ease but without periodic paralysis were taken as GD group and 94 normal male individuals were taken as control（NC group）. Whole genome was extracted from each participant’s peripheral blood and the target region was amplified and sequenced. Results：The risk alley frequency of rs312691 in TPP group was 0.674，significantly higher than that in GD group and NC group. The odds ratio of geno－type CC in TPP group was 5.390 times higher than that in GD group and 2.481 times higher than that in NC group. The risk alley fre－quency of rs623011 in TPP group was also 0.674，significantly higher than that in GD group and NC group. The odds ratio of genotype AA in TPP group was 5.292 times higher than that in GD group and 3.226 times higher than that in NC group. Conclusion：The KCNJ2 related rs312691 and rs623011 are significantly related to Chinese TPP.