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Genetic polymorphism analysis of patients with primary hyperhidrosis.

ABSTRACT: 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.

SUBMITTER: Simes BC

PROVIDER: S-EPMC6187922 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Genetic polymorphism analysis of patients with primary hyperhidrosis.

Simes Bryce C BC Moore Joshua P JP Brown Terry C TC Rushforth Tyler J TJ Bookout Angela L AL Richardson Chante L CL

Clinical, cosmetic and investigational dermatology 20181011

<h4>Background</h4>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.<h4>Objective</h4>The aim of this study was to determine possible genetic variations contributing to primary hyperhidrosis, specifically single-nucleotide polymorphisms (S ...[more]

PMID: 30349345

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Project description:BackgroundGlycopyrronium tosylate (GT; Qbrexza® [glycopyrronium] cloth, 2.4%) is a topical anticholinergic approved (USA) for primary axillary hyperhidrosis in patients aged ≥ 9 years.ObjectiveThe objective of this study was to compare the pharmacokinetics and safety of GT to oral glycopyrrolate (phase I study) and assess the relationship between glycopyrronium pharmacokinetics and anticholinergic-related adverse events or efficacy with population pharmacokinetics using data from two phase II studies.MethodsIn the phase I study, study staff applied GT to axillae of patients with primary axillary hyperhidrosis (aged 9-65 years) once daily (5 days); oral glycopyrrolate was administered to healthy adults (aged 18-65 years) every 8 hours (15 days). In the phase II studies (NCT02016885 [20 December, 2013], NCT02129660 [2 May, 2014]), adults with primary axillary hyperhidrosis applied topical glycopyrronium (0.8-3.2%) or vehicle to axillae once daily (4 weeks). Pharmacokinetic and adverse event data were collected in all studies.ResultsGlycopyrronium pharmacokinetic parameters were similar between adult and pediatric patients treated with GT; there was no evidence of accumulation. Systemic absorption of glycopyrronium was lower with GT vs oral glycopyrrolate. No anticholinergic-related adverse events occurred with GT in the phase I study, while dry mouth and nasal dryness occurred with oral glycopyrrolate; anticholinergic adverse events occurred in the phase II studies. In the population pharmacokinetic analysis, frequency/severity of anticholinergic-related adverse events increased with higher glycopyrronium concentration; no relationship was observed between efficacy and pharmacokinetic measures.ConclusionsThese studies indicate limited absorption of GT compared to oral glycopyrrolate and a low risk of anticholinergic adverse events with proper GT administration when following instructions for use (wipe each underarm once with same cloth, wash hands, avoid ocular contact).

Project description:BackgroundHyperhidrosis is a pathological condition defined by excessive sweating beyond thermoregulatory physiological needs, which can cause substantial psychological impact and impairment of daily activities. Studies regarding its prevalence, however, are scarce and vary widely in their findings. The population of medical students is a particularly interesting subset for its recurring demand of physical contact during patient examination or procedures, and the potential for professional adversity. We aimed at furthering the comprehension of this disease prevalence and characteristics among medical students.MethodsQuestionnaires inquiring about the presence and characteristics of Primary Hyperhidrosis (PH) were applied through either written or digital means to all eligible medical students enrolled in three Medical Schools in the State of Rio de Janeiro who agreed to take part in the study. Demographic data regarding gender, ethnicity, current age, weight and height was collected in addition to clinical data (sweat site, age of onset, familial history, severity and previous treatments). Severity was evaluated through the Hyperhidrosis Disease Severity Scale (HDSS) and a symptoms survey.FindingsOur response rate was roughly 1/3 of all eligible students (900/2700). PH prevalence was 20.56% (185/900). It was similar between men and women (23.08% and 19.41%, respectively) and strongly associated with family history of the disease (Prevalence Ratio of 4.27). Regarding ethnicity, of the total sample 73.78% (664/900) self-declared white, among which 19.28% (128/664) had PH. Mixed-race and other ethnicities encompassed 26.22% (236/900) of the sample, among which 24.15% (57/236) had PH. Most positive subjects (64.32%) presented associated forms of PH. Overall involvement of each site (both associated and isolated) was: 63.78% axillary, 50.81% palmar, 43.24% plantar, 20.54% craniofacial, 18.38% facial flushing and 2.16% gustatory sweating. Mean current age was 23.11(±4.04) years for PH patients, and age of onset was ≤18 years in 93.94% of cases. Regarding body mass index (BMI), 71.09% of PH patients had BMI<25kg/m2 and only 4.69% presented BMI≥30kg/m2, none ≥35kg/m2. Some degree of life quality impairment was reported by 89.20% of PH patients, and 23.89% had HDSS 3 or 4 (moderate to severe).ConclusionsPH prevalence among Rio de Janeiro medical students was 20.56%, similar between men and women, predominating associated presentations, axillary, palmar and plantar sites, strong familial history, age of onset before 18 years, and some degree of life impairment.

Project description:BACKGROUND:Glycopyrronium tosylate is a topical anticholinergic approved in the USA for primary axillary hyperhidrosis in patients aged???9 years (Qbrexza™ [glycopyrronium] cloth, 2.4%). OBJECTIVE:This 44-week open-label extension study assessed glycopyrronium tosylate safety and descriptive efficacy in patients completing one of two, phase III, double-blind, vehicle-controlled, 4-week trials (NCT02530281; NCT02530294). METHODS:Patients aged???9 years with primary axillary hyperhidrosis were randomized 2:1 (glycopyrronium tosylate: vehicle, once daily) in the double-blind trials. Completers could receive open-label glycopyrronium tosylate for up to an additional 44 weeks. Treatment-emergent adverse events and local skin reactions were assessed. Descriptive efficacy assessments were gravimetrically measured sweat production, Hyperhidrosis Disease Severity Scale responder rate (??2 grade improvement), and Dermatology Life Quality Index/children's Dermatology Life Quality Index. RESULTS:Of 651 patients completing the double-blind trials, 564 (86.6%) entered the open-label extension; 550 were analyzed. Most patients experiencing treatment-emergent adverse events had mild or moderate events (>?90%). Discontinuation because of treatment-emergent adverse events remained low and relatively stable, with a cumulative rate of 8.0% (44/550) over 44 weeks. Common treatment-emergent adverse events (>?5%) were dry mouth (16.9%), vision blurred (6.7%), application-site pain (6.4%), nasopharyngitis (5.8%), and mydriasis (5.3%). Most patients (67.5%) had no local skin reactions; those occurring were predominantly mild/moderate. Glycopyrronium tosylate efficacy was maintained throughout the trial; at week 44, the Hyperhidrosis Disease Severity Scale responder rate was 63.2%, and improvements from baseline (double blind) in sweat production were -?71.3% and 8.7?±?6.2/6.2?±?4.9 for Dermatology Life Quality Index/children's Dermatology Life Quality Index. CONCLUSIONS:Daily long-term application of glycopyrronium tosylate for up to 48 weeks (double blind plus open label) was generally well tolerated and efficacy was maintained. No new safety signals emerged. TRIAL REGISTRY:Clinicaltrials.gov NCT02553798.

Dataset Information

Genetic polymorphism analysis of patients with primary hyperhidrosis.

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Genetic polymorphism analysis of patients with primary hyperhidrosis.

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