Genetic polymorphism analysis of patients with primary hyperhidrosis.

BACKGROUND

Hyperhidrosis affects 220 million people worldwide. The hallmark of this condition is excessive sweating, which negatively impacts the social, emotional, and occupational lives of these individuals. A familial predisposition has been established; however, the specific genes involved have yet to be identified.

OBJECTIVE

The aim of this study was to determine possible genetic variations contributing to primary hyperhidrosis, specifically single-nucleotide polymorphisms (SNPs).

PATIENTS AND METHODS

Twenty-one case and 21 control DNA samples were extracted and genotyped for 20 SNPs associated with the Butyrylcholinesterase () and Cholinergic Receptor Nicotinic Alpha-7 subunit () genes.

RESULTS

For rs1126680, the -116A variant allele (-value=0.15) was found only in hyperhidrosis patients who also had the K-variant allele (-value=0.65) in rs1803274. Further analysis testing the null hypothesis of independence between the combined genotypes and case/control status yielded a -value of 0.30.

CONCLUSION

Our results are consistent with previous research that shows the K-variant requires the -116A variant to be present in order to observe a decrease in BChE activity levels. These results are not statistically significant (-value >0.05), but the exclusive association between the -116A and K-variants on the gene in hyperhidrosis patients warrants further investigation using a larger sample size.