Primary focal hyperhidrosis (PFH, OMIM %144110) is a genetically influenced condition characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general population, dependent on ethnicity. The aetiology of PFH remains unclear but an autosomal dominant mode of inheritance, incomplete penetrance and variable phenotypes have been reported. In our study, nine pedigrees (50 affected, 53 non-affected individuals) were included. Clinical characterisation was performed at the German Hyperhidrosis Centre, Munich, by using physiological and psychological questionnaires. Genome-wide parametric linkage analysis with GeneHunter was performed based on the Illumina genome-wide SNP arrays. Haplotypes were constructed using easyLINKAGE and visualised via HaploPainter. Whole-exome sequencing (WES) with 100x coverage in 31 selected members (24 affected, 7 non-affected) from our pedigrees was achieved by next generation sequencing. We identified four genome-wide significant loci, 1q41-1q42.3, 2p14-2p13.3, 2q21.2-2q23.3 and 15q26.3-15q26.3 for PFH. Three pedigrees map to a shared locus at 2q21.2-2q23.3, with a genome-wide significant LOD score of 3.45. The chromosomal region identified here overlaps with a locus at chromosome 2q22.1-2q31.1 reported previously. Three families support 1q41-1q42.3 (LOD = 3.69), two families share a region identical by descent at 2p14-2p13.3 (LOD = 3.15) and another two families at 15q26.3 (LOD = 3.01). Thus, our results point to considerable genetic heterogeneity. WES did not reveal any causative variants, suggesting that variants or mutations located outside the coding regions might be involved in the molecular pathogenesis of PFH. We suggest a strategy based on whole-genome or targeted next generation sequencing to identify causative genes or variants for PFH.

Dysfunctional eating behavior is a major risk factor for developing all sorts of eating disorders. Food craving is a concept that may help to understand better why and how these and other eating disorders become chronic conditions through non homeastatically-driven mechanisms. As obesity affects people worldwide, cultural differences must be acknowledged to apply proper therapeutic strategies. In this work, we adapted the Food Craving Inventory (FCI) to the German population. We performed a factor analysis of an adaptation of the original FCI in a sample of 326 men and women. We could replicate the factor structure of the FCI on a German population.rnThe factor extraction procedure produced a factor solution that reproduces the fourfactors described in the original inventory, the FCI. Our instrument presents high internal consistency, as well as a significant correlation with measures of convergent and discriminant validity. The FCI-Deutsch (FCI-DE) is a valid instrument to assess craving for particular foods in Germany, and it could, therefore, prove useful in the clinical and research practice in the field of obesity and eating behaviors.