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Genetic polymorphism analysis of patients with primary hyperhidrosis

Authors Simes BC, Moore JP, Brown TC, Rushforth TJ, Bookout AL, Richardson CL

Received 20 June 2018

Accepted for publication 14 August 2018

Published 11 October 2018 Volume 2018:11 Pages 477—483


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Jeffrey Weinberg

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.

hyperhidrosis, butyrylcholinesterase, BCHE, cholinergic receptor nicotinic alpha-7 subunit, CHRNA7, K-variant, rs1803274, -116A variant, rs1126680, acetylcholinesterase

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