The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China / 生物医学工程学杂志

ABSTRACT

The present research was aimed to investigate the relationships between the single nueleotide polymorphisms (SNPs) of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis (THPP)in the people of Han Nationality in Sichuan China. 100 male subjects were divided into four groups in this study, i.e., 22 patients with THPP, 23 patients with hypokalemic periodic paralysis (HPP), 33 patients with thyrotoxicosis but without hypokalemic periodic paralysis (NTHPP), and 22 healthy (control group) subjects. The sequences of the CACNA1S gene exon 11 polymorphisms, for the four groups respectively, were analysed by the SNPs method with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA direct sequencing. A meta-analysis of three additional studies was also performed. Three SNPs of exon 11 of the CACNA1S gene (C1491T, T1551C, C1564T) were present in all the four groups. The polymorphisms C1491T and T1551C were present in both homozygotes and heterozygotes, while the C1564T polymorphism was present only in heterozygotes. The genotype frequencies of variants at C1491T and T1551C were not significantly associated with TPP (dominant model P=0.530 and P=0.568; allele frequency model P=0.563 and P=0.568). A Meta-analysis yielded combined odds ratio (OR) for TPP of 2. 12 (95% CI 0.80-5.60) at C1491T, 2.90 (95% CI 0.71-11.78) at T1551C, and 1.61 (95% CI 0.36-7.26) at C1564T with the dominant model. These results suggested that three SNPs of CACNA1S gene exon 11 definitely could exist but could not be associated with TPP people of Han Nationality in Sichuan.