骨骼肌二氢吡啶敏感的L型钙离子通道α1亚基基因多态性与甲状腺功能亢进性低钾周期性瘫痪的相关性

Correlation between CACNA1S gene polymorphism and thyrotoxic hypokalemic periodic paralysis

目的研究骨骼肌二氢吡啶敏感的L型钙离子通道α1亚基(CACNA1S)基因11外显子1551位点T/C和1564位点C/T多态性与中国西南地区汉族男性甲状腺功能亢进(甲亢)性低钾周期性瘫痪(THPP)的相关性。方法选取中国西南地区男性THPP患者90例(THPP组),甲亢不伴周期性瘫痪者98例(GD组),正常对照95名(CN组),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,对CACNA1S基因第11外显子区1551T/C多态性位点和1564C/T多态性位点进行基因分型。结果①在CACNA1S基因1551位点,THPP组TT、TC、CC基因型频率分别为56.7%、34.4%、8.9%,GD组分别为71.4%、25.5%、3.1%,CN组分别为74.7%、23.2%、2.1%,THPP组TC+CC基因型和C等位基因频率显著高于GD组和CN组(P值均<0.05),GD组与CN组的差异无统计学意义(P值均>0.05);②在CACNA1S基因1564位点, THPP组CC、CT、TT基因型频率分别为70.0%、26.7%、3.3%,GD组分别为84.7%、14.3%、1.0%,CN组分别为86.3%、12.6%、1.1%,THPP组CT+TT基因型和T等位基因频率显著高于GD组和CN组(P值均<0.05),GD组与CN组的差异无统计学意义(P值均>0.05)。结论CACNA1S基因11外显子1551T/C多态性位点和1564C/T多态性位点可能与中国西南地区汉族男性THPP的发生有关。

Objective To study the association between CACNA1S gene 1551T/C and 1564C/T polymorphism at exon 11 and thyrotoxic hypokalemic periodic paralysis（THPP） in male Han population coming from Southwest China. Methods Ninety male patients with THPP（THPP group）, 98 with hyperthyroidism（GD group） and 95 normal subjects （CN group） from Southwest China were enrolled in this study. Polymorphisms in 1551T/C and 1564C/T at exon 11 of CACNA1S gene were genotyped using PCR-RFLP in all the subjects. Results ① The frequencies of CACNA1S gene 1551 TT, TC and CC genotype in THPP group were 70.0%, 26.7%, and 3.3%, respectively; in GDgroup were 71.4%,25.5%, and 3.1%, respectively; and in CN group were 74.7%, 23.2%, and 2.1%, respectively. The distribution rates of TT＋TC genotype and C allele in THPP group were significantly higher than those in GD and CN groups （all P〈0.05）. There was no significant difference between GD group and CN group. ② The frequencies of CACNA1S gene 1564 CC, CT and TT genotype in THPP group were 70. 0% ,26.7%, and 3.3%, respectively; in GD group were 84.7 %,14.3 %, and 1.0 %, respectively; and in the NC group were 86.3 %, 12.6 %, and 1.1% , respectively. The distribution rates of CT ＋ TT genotype and T allele in THPP were significantly higher than those in GD and CN groups （all P〈0.05）. There was no significant difference between GD group and CN group. Conclusion CACNAIS gene 1551T/C and 1564C/T polymorphism at exon 11 might be associated with THPP in male Han population from Southwest China.