Cav1.1基因26内含子67位点A/G多态性与甲状腺功能亢进性周期性瘫痪的相关性研究

Association between calcium channel α1 subunit gene and thyrotoxic periodic paralysis

目的探讨钙通道α1亚基(Cav1.1)基因26内含子-67A/G多态性与男性甲状腺功能亢进(简称甲亢)性周期性瘫痪(TPP)的相关性。方法采用多聚酶链反应单链构象多态性(PCR SSCP)方法检测46例男性TPP患者(TPP组)、68例男性甲亢患者(GD组)和72名男性健康对照者(CON组)Cav1.1基因26内含子-67A/G多态性。分析比较此多态位点基因型和等位基因在不同人群中分布的差异。结果(1)TPP组、GD组及CON组AG+GG基因型频率分别为47.83%、14.71%、29.17%,G等位基因频率分别为44.57%、13.24%、27.78%。(2)TPP组AG+GG基因型频率明显高于GD组和CON组(OR=5.32,P<0.01;OR=2.23,P=0.04),TPP组G等位基因频率明显高于GD组和CON组(OR=5.27,P<0.01;OR=2.09,P=0.008)。结论Cav1.1基因26内含子-67位点A/G多态性与男性TPP有相关性。

Objective To explore the relationship between calcium channel α1 subunit （ Cav1. 1 ） gene intron 26 -67 A/G polymorphism and thyrotoxic periodic paralysis（TPP）. Methods Cav1. 1 gene polymorphism at position -67 was determined by polymerase chain reaction-single-strand conformation polymorphism （PCR-SSCP） in 46 male patients with TPP, 68 male Graves＇ disease （GD） patients without TPP and 72 healthy male controls. The difference of genotype and the variation of allele frequencies were analyzed by Chi-square test. Results （ 1 ） Frequencies distribution of AG ＋ GG genotype in TPP, GD and control groups were 47.83% , 14.71% and 29. 17% respectively, and those of allele G were 44. 57% , 13.24% and 27. 78% for the three groups respectively. （2） Frequencies of -67 AG ＋ GG genotype in TPP group were significantly higher than those in GD and CON group （ OR = 5.32, P 〈 0. 01 ; OR = 2.23, P = 0. 04）. Frequencies of allele G in TPP group were significantly higher than those in GD and CON group （OR=5.27, P〈0.01; 0R=2.09, P=0.008）. Conclusion Allele G of Cav1. 1 gene at position -67 may be associated with TPP in male HAN population.