Approved Research

Genome-wide association study to identify variants associated with primary focal hyperhidrosis

Lay summary

Primary focal hyperhidrosis (PFH) is a disorder in which a person exhibits excessive sweating, irrespective of apparent health issues. 1.0 - 6.1 % of the general population suffer from this condition. It often leads to a considerable psychological strain and a reduction in their quality of life, which sometimes ends up in social isolation. The underlying cause of the disease is poorly understood. The few former studies, including our own latest study, revealed a substantial genetic influence, but could not identify potentially causative variants yet. People differ from one another in their individual composition of genetic variants. The most frequent genetic variation is the single nucleotide polymorphism (SNP), which is a variation of a single base pair at a genetic locus. Thus, such SNPs might contribute to the condition and could be identified by genome-wide association studies (GWAS). The former studies point to autosomal dominant inheritance, meaning the causative variant lies not on a sex chromosome, but rather on one - or more - of the other 22 autosomes and one copy of the causative variant on one homologous chromosome is sufficient to develop PFH. Furthermore, our latest study confirmed locus heterogeneity, meaning that in different families more than one genetic variant might be responsible. 

The aim of this research project is the identification of genetic variants, which are potentially causative for PFH. Therefore, we initiated a GWAS, which is an analysis to observe a genome-wide set of genetic variants. We included more than 200 hyperhidrotics and 4,000 controls to identify variants associated with PFH. To increase our data, we would like to add the GWAS data of hyperhidrotics hosted at the UK Biobank. The project duration will take up to 36 month. The identification of causative variants would enable the discovery of the underlying molecular mechanisms of the pathogenesis of PFH. Consequently a more profound understanding of the aetiology could emerge, which could have far-reaching implications for the diagnosis and therapy of PFH. Even though there is a range of symptomatic medical treatment methods, however they are often ineffective or affected by strong side effects. The identification of the molecular mechanisms of the pathogenesis of PFH could therefore enable the finding of new molecular targets for pharmaceutical substances and more effective treatment methods.