Clinical, Cosmetic and Investigational Dermatology (Oct 2018)
Genetic polymorphism analysis of patients with primary hyperhidrosis
Abstract
Bryce C Simes,1 Joshua P Moore,1 Terry C Brown,1 Tyler J Rushforth,1 Angela L Bookout,2 Chante L Richardson1 1Alabama College of Osteopathic Medicine, Dothan, AL, USA; 2Southern Institute of Dermatology, Dothan, AL, USA 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 (BCHE) and Cholinergic Receptor Nicotinic Alpha-7 subunit (CHRNA7) genes.Results: For rs1126680, the –116A variant allele (P-value=0.15) was found only in hyperhidrosis patients who also had the K-variant allele (P-value=0.65) in rs1803274. Further analysis testing the null hypothesis of independence between the combined genotypes and case/control status yielded a P-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 (P-value >0.05), but the exclusive association between the –116A and K-variants on the BCHE gene in hyperhidrosis patients warrants further investigation using a larger sample size. Keywords: hyperhidrosis, butyrylcholinesterase, BCHE, cholinergic receptor nicotinic alpha-7 subunit, CHRNA7, K-variant, rs1803274, -116A variant, rs1126680, acetylcholinesterase
