Skip to navigation Skip to main content Skip to footer

Approved research

Identification of genetic susceptibility loci for hemorrhoids disease

Principal Investigator: Professor Andre Franke
Approved Research ID: 31435
Approval date: March 27th 2018

Lay summary

We hypothesize that hemorrhoids disease has a genetic component, i.e. yet unknown genetic susceptibility factors exist. Hemorrhoids are a rectal condition caused by the enlargement and extracorporeal shifting of anoreactal cushions. Different grades of the disease can be specified based on the extend of a possible prolapse and reduction of the hemorrhoids. Using the UK Biobank data we would like to increase the sample size in our ongoing case-control association analysis for hemorrhoids disease. Pathophysiologocial mechanisms of hemorrhoids disease are poorly understood. A hereditary predisposition is suggested. There is a high prevalence within the worldwide population. Professionals estimate that 70-80% of population suffer from symptomatic hemorrhoids once in a lifetime. We have gained access to app. 90,000 patients and 120,000 controls. The first analysis of this data resulted in >10 genome-wide significant loci. In summer 2017, we will also have collected 1000 German clinical cases, i.e. deeply characterized patients (vs. >3,500 German healthy blood donors) and who were all operated for hemorrhoids disease. This cohort will be used to validate the afore-mentioned candidate loci and also for an epidemiological analysis of hemorrhoids disease as environmental factors, BMI, etc. may also play a role in the disease etiology. The full cohort is required for maximum power.