KCNJ2基因下游rs312691、rs623011位点多态性与甲状腺毒症周期性瘫痪的关系

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

目的:探讨KCNJ2基因下游rs312691与rs623011这2位点是否为中国大陆甲状腺毒症周期性瘫痪(thyrotoxic periodic paralysis,TPP)患者可疑致病位点。方法:对TPP组112人,不伴低钾周瘫的Graves’甲亢(GD组)127人,正常对照组(NC组)94人提取全基因组DNA以及PCR扩增,于目标位点进行单向测序。结果:rs312691等位基因C在TPP组的基因频率为0.674,显著高于GD组0.40和NC组0.463,CC基因型的甲亢男性和正常男性相较CT和TT基因型发生TPP的风险分别为5.390倍和2.481倍;rs623011等位基因A在TPP组的基因频率也为0.674,显著高于GD组0.386和NC组0.431,AA基因型的甲亢男性和正常男性相较AG基因型和GG基因型发生TPP的风险分别为5.292倍和3.236倍。结论:rs312691与rs623011均与中国大陆TPP显著相关,可能为TPP致病位点。

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.